Defining the phenotypic spectrum of SLC6A1 mutations
Summary Objective Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1‐mutated patients. Methods We collected 24 SLC6A1 probands and 6 affected f...
Saved in:
| Published in | Epilepsia (Copenhagen) Vol. 59; no. 2; pp. 389 - 402 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Wiley Subscription Services, Inc
01.02.2018
Wiley |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0013-9580 1528-1167 1528-1167 |
| DOI | 10.1111/epi.13986 |
Cover
| Abstract | Summary
Objective
Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1‐mutated patients.
Methods
We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects.
Results
Cognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature. Epilepsy was diagnosed in 31/34 cases with mean onset at 3.7 years. Cognitive assessment before epilepsy onset was available in 24/31 subjects and was normal in 25% (6/24), and consistent with mild ID in 46% (11/24) or moderate ID in 17% (4/24). Two patients had speech delay only, and 1 had severe ID. After epilepsy onset, cognition deteriorated in 46% (11/24) of cases. The most common seizure types were absence, myoclonic, and atonic seizures. Sixteen cases fulfilled the diagnostic criteria for MAE. Seven further patients had different forms of generalized epilepsy and 2 had focal epilepsy. Twenty of 31 patients became seizure‐free, with valproic acid being the most effective drug. There was no clear‐cut correlation between seizure control and cognitive outcome. Electroencephalography (EEG) findings were available in 27/31 patients showing irregular bursts of diffuse 2.5‐3.5 Hz spikes/polyspikes‐and‐slow waves in 25/31. Two patients developed an EEG pattern resembling electrical status epilepticus during sleep. Ataxia was observed in 7/34 cases. We describe 7 truncating and 18 missense variants, including 4 recurrent variants (Gly232Val, Ala288Val, Val342Met, and Gly362Arg).
Significance
Most patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed. |
|---|---|
| AbstractList | Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients.
We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects.
Cognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature. Epilepsy was diagnosed in 31/34 cases with mean onset at 3.7 years. Cognitive assessment before epilepsy onset was available in 24/31 subjects and was normal in 25% (6/24), and consistent with mild ID in 46% (11/24) or moderate ID in 17% (4/24). Two patients had speech delay only, and 1 had severe ID. After epilepsy onset, cognition deteriorated in 46% (11/24) of cases. The most common seizure types were absence, myoclonic, and atonic seizures. Sixteen cases fulfilled the diagnostic criteria for MAE. Seven further patients had different forms of generalized epilepsy and 2 had focal epilepsy. Twenty of 31 patients became seizure-free, with valproic acid being the most effective drug. There was no clear-cut correlation between seizure control and cognitive outcome. Electroencephalography (EEG) findings were available in 27/31 patients showing irregular bursts of diffuse 2.5-3.5 Hz spikes/polyspikes-and-slow waves in 25/31. Two patients developed an EEG pattern resembling electrical status epilepticus during sleep. Ataxia was observed in 7/34 cases. We describe 7 truncating and 18 missense variants, including 4 recurrent variants (Gly232Val, Ala288Val, Val342Met, and Gly362Arg).
Most patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed. Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients.OBJECTIVEPathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients.We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects.METHODSWe collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects.Cognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature. Epilepsy was diagnosed in 31/34 cases with mean onset at 3.7 years. Cognitive assessment before epilepsy onset was available in 24/31 subjects and was normal in 25% (6/24), and consistent with mild ID in 46% (11/24) or moderate ID in 17% (4/24). Two patients had speech delay only, and 1 had severe ID. After epilepsy onset, cognition deteriorated in 46% (11/24) of cases. The most common seizure types were absence, myoclonic, and atonic seizures. Sixteen cases fulfilled the diagnostic criteria for MAE. Seven further patients had different forms of generalized epilepsy and 2 had focal epilepsy. Twenty of 31 patients became seizure-free, with valproic acid being the most effective drug. There was no clear-cut correlation between seizure control and cognitive outcome. Electroencephalography (EEG) findings were available in 27/31 patients showing irregular bursts of diffuse 2.5-3.5 Hz spikes/polyspikes-and-slow waves in 25/31. Two patients developed an EEG pattern resembling electrical status epilepticus during sleep. Ataxia was observed in 7/34 cases. We describe 7 truncating and 18 missense variants, including 4 recurrent variants (Gly232Val, Ala288Val, Val342Met, and Gly362Arg).RESULTSCognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature. Epilepsy was diagnosed in 31/34 cases with mean onset at 3.7 years. Cognitive assessment before epilepsy onset was available in 24/31 subjects and was normal in 25% (6/24), and consistent with mild ID in 46% (11/24) or moderate ID in 17% (4/24). Two patients had speech delay only, and 1 had severe ID. After epilepsy onset, cognition deteriorated in 46% (11/24) of cases. The most common seizure types were absence, myoclonic, and atonic seizures. Sixteen cases fulfilled the diagnostic criteria for MAE. Seven further patients had different forms of generalized epilepsy and 2 had focal epilepsy. Twenty of 31 patients became seizure-free, with valproic acid being the most effective drug. There was no clear-cut correlation between seizure control and cognitive outcome. Electroencephalography (EEG) findings were available in 27/31 patients showing irregular bursts of diffuse 2.5-3.5 Hz spikes/polyspikes-and-slow waves in 25/31. Two patients developed an EEG pattern resembling electrical status epilepticus during sleep. Ataxia was observed in 7/34 cases. We describe 7 truncating and 18 missense variants, including 4 recurrent variants (Gly232Val, Ala288Val, Val342Met, and Gly362Arg).Most patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed.SIGNIFICANCEMost patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed. ObjectivePathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1‐mutated patients.MethodsWe collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects.ResultsCognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature. Epilepsy was diagnosed in 31/34 cases with mean onset at 3.7 years. Cognitive assessment before epilepsy onset was available in 24/31 subjects and was normal in 25% (6/24), and consistent with mild ID in 46% (11/24) or moderate ID in 17% (4/24). Two patients had speech delay only, and 1 had severe ID. After epilepsy onset, cognition deteriorated in 46% (11/24) of cases. The most common seizure types were absence, myoclonic, and atonic seizures. Sixteen cases fulfilled the diagnostic criteria for MAE. Seven further patients had different forms of generalized epilepsy and 2 had focal epilepsy. Twenty of 31 patients became seizure‐free, with valproic acid being the most effective drug. There was no clear‐cut correlation between seizure control and cognitive outcome. Electroencephalography (EEG) findings were available in 27/31 patients showing irregular bursts of diffuse 2.5‐3.5 Hz spikes/polyspikes‐and‐slow waves in 25/31. Two patients developed an EEG pattern resembling electrical status epilepticus during sleep. Ataxia was observed in 7/34 cases. We describe 7 truncating and 18 missense variants, including 4 recurrent variants (Gly232Val, Ala288Val, Val342Met, and Gly362Arg).SignificanceMost patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed. Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients.METHODS: We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects.RESULTS: Cognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature. Epilepsy was diagnosed in 31/34 cases with mean onset at 3.7 years. Cognitive assessment before epilepsy onset was available in 24/31 subjects and was normal in 25% (6/24), and consistent with mild ID in 46% (11/24) or moderate ID in 17% (4/24). Two patients had speech delay only, and 1 had severe ID. After epilepsy onset, cognition deteriorated in 46% (11/24) of cases. The most common seizure types were absence, myoclonic, and atonic seizures. Sixteen cases fulfilled the diagnostic criteria for MAE. Seven further patients had different forms of generalized epilepsy and 2 had focal epilepsy. Twenty of 31 patients became seizure-free, with valproic acid being the most effective drug. There was no clear-cut correlation between seizure control and cognitive outcome. Electroencephalography (EEG) findings were available in 27/31 patients showing irregular bursts of diffuse 2.5-3.5 Hz spikes/polyspikes-and-slow waves in 25/31. Two patients developed an EEG pattern resembling electrical status epilepticus during sleep. Ataxia was observed in 7/34 cases. We describe 7 truncating and 18 missense variants, including 4 recurrent variants (Gly232Val, Ala288Val, Val342Met, and Gly362Arg).SIGNIFICANCE: Most patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed. Summary Objective Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1‐mutated patients. Methods We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects. Results Cognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature. Epilepsy was diagnosed in 31/34 cases with mean onset at 3.7 years. Cognitive assessment before epilepsy onset was available in 24/31 subjects and was normal in 25% (6/24), and consistent with mild ID in 46% (11/24) or moderate ID in 17% (4/24). Two patients had speech delay only, and 1 had severe ID. After epilepsy onset, cognition deteriorated in 46% (11/24) of cases. The most common seizure types were absence, myoclonic, and atonic seizures. Sixteen cases fulfilled the diagnostic criteria for MAE. Seven further patients had different forms of generalized epilepsy and 2 had focal epilepsy. Twenty of 31 patients became seizure‐free, with valproic acid being the most effective drug. There was no clear‐cut correlation between seizure control and cognitive outcome. Electroencephalography (EEG) findings were available in 27/31 patients showing irregular bursts of diffuse 2.5‐3.5 Hz spikes/polyspikes‐and‐slow waves in 25/31. Two patients developed an EEG pattern resembling electrical status epilepticus during sleep. Ataxia was observed in 7/34 cases. We describe 7 truncating and 18 missense variants, including 4 recurrent variants (Gly232Val, Ala288Val, Val342Met, and Gly362Arg). Significance Most patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed. |
| Author | Gardella, Elena Merritt, J. Lawrence Reichert, Sara Chadwick Choi, Murim Carvill, Gemma L. Helbig, Ingo Chae, Jong‐Hee Myers, Candace T. Mecarelli, Oriano Nava, Caroline Christensen, Jakob Trivisano, Marina Doummar, Diane Courage, Carolina Nespeca, Mark Saint Martin, Anne Tang, Sha Møller, Rikke S. Mignot, Cyril Verhoeven, Judith S. Afenjar, Alexandra Keren, Boris Yoo, Yongjin Rubboli, Guido Hopkins, Sarah Tang, Shan Johannesen, Katrine M. Pal, Deb K. Schelhaas, Helenius J. Gleeson, Joseph G. Specchio, Nicola Lehesjoki, Anna‐Elina Shaw, Jessica E. Devinsky, Orrin Helbig, Kathrine L. Weber, Yvonne G. Abi‐Warde, Marie‐Thérèse Lesca, Gaetan Piton, Amélie Pendziwiat, Manuela Dubbs, Holly Tan, Wen‐Hann Rodan, Lance H. Striano, Pasquale Linnankivi, Tarja Schaefer, Elise Millichap, John J. Czapansky‐Beilman, Desiree Bird, Lynne M. Pisani, Laura Mefford, Heather C. Chelly, Jamel |
| AuthorAffiliation | 40 Northwestern University Feinberg School of Medicine, Chicago, IL, USA 11 Claude Bernard Lyon I University, Lyon, France 41 Department of Neurology and Psychiatry, Neurophysiopathology and Neuromuscular Diseases, University of Sapeinza, Rome, Italy 15 Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA 39 Epilepsy Center and Division of Neurology, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA 25 Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany 30 Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tüebingen, Tüebingen, Germany 9 APHP, Genetic Services, Hospital Trousseau, Paris, France 12 Lyon Neuroscience Research Center, CNRS UMRS5292, INSERM U1028, Lyon, France 14 Laboratory of Genetic Diagnosis, Hôpitaux Universitaires de Strasbourg, Strasbourg, France 37 Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA 7 Refer |
| AuthorAffiliation_xml | – name: 2 Institute for Regional Health Services Research, University of Southern Denmark, Odense, Denmark – name: 15 Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA – name: 4 The Folkhälsan Institute of Genetics, University of Helsinki, Helsinki, Finland – name: 16 Boston Children’s Hospital, Boston, MA, USA – name: 34 Medical Genetics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France – name: 43 University of Copenhagen, Copenhagen, Denmark – name: 21 Department of Biomedical Sciences, Seoul National University School of Medicine, Seoul, South Korea – name: 40 Northwestern University Feinberg School of Medicine, Chicago, IL, USA – name: 6 Department of Pediatrics, Pediatric Neurology, University Hospital of Strasbourg, Strasbourg, France – name: 11 Claude Bernard Lyon I University, Lyon, France – name: 42 Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa ‘G. Gaslini” Institute, Genova, Italy – name: 26 Department of Neurology, Academic Center for Epileptology, Heeze, The Netherlands – name: 20 Rady Children’s Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, CA, USA – name: 5 Research Programs Unit, Molecular Neurology and Neuroscience Center, Helsinki, Finland – name: 27 NYU Epilepsy Center, New York, NY, USA – name: 17 Harvard Medical School, Boston, MA, USA – name: 41 Department of Neurology and Psychiatry, Neurophysiopathology and Neuromuscular Diseases, University of Sapeinza, Rome, Italy – name: 22 Department of Pediatrics, Seoul National University Children’s Hospital, Seoul National University School of Medicine, Seoul, South Korea – name: 35 Division of Neurology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA – name: 8 Department of Genetics, Center for Rare causes of Intellectual Disabilities and UPMC Research Group “Intellectual Disabilities and Autism”, Paris, France – name: 32 Sorbonne Universities, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France – name: 39 Epilepsy Center and Division of Neurology, Ann & Robert H. Lurie Children’s Hospital of Chicago, Chicago, IL, USA – name: 25 Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany – name: 24 Children’s Minnesota, Minneapolis, MN, USA – name: 29 Neurology Unit, Department of Neuroscience, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy – name: 1 The Danish Epilepsy Center Filadelfia, Dianalund, Denmark – name: 13 Department of Translational Medicine and Neurogenetics, Institut Génétique Biologie Moléculaire Cellulaire (IGBMC), Illkirch, France – name: 37 Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA – name: 9 APHP, Genetic Services, Hospital Trousseau, Paris, France – name: 10 Department of Genetics, Lyon University Hospitals, Lyon, France – name: 12 Lyon Neuroscience Research Center, CNRS UMRS5292, INSERM U1028, Lyon, France – name: 28 Department of Neurology, Aarhus University Hospital, Aarhus, Denmark – name: 19 Division of Neurology, Rady Children’s Hospital, University of California, San Diego, CA, USA – name: 23 Pediatric Neurology, Gillette Children’s Specialty Healthcare, Burnsville, MN, USA – name: 38 Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King’s College London, London, UK – name: 18 Division of Genetics, Department of Pediatrics, Rady Children’s Hospital San Diego, University of California San Diego, San Diego, CA, USA – name: 31 Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France – name: 30 Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tüebingen, Tüebingen, Germany – name: 36 Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, USA – name: 33 Assistance Publique-Hôpitaux de Paris, Neuropediatric Services, Hospital Armand Trousseau, Paris, France – name: 7 Reference Center for Rare Epilepsies, Strasbourg, France – name: 3 Department of Child Neurology, Children’s Hospital, Helsinki University Hospital Helsinki, University of Helsinki, Helsinki, Finland – name: 14 Laboratory of Genetic Diagnosis, Hôpitaux Universitaires de Strasbourg, Strasbourg, France |
| Author_xml | – sequence: 1 givenname: Katrine M. surname: Johannesen fullname: Johannesen, Katrine M. organization: University of Southern Denmark – sequence: 2 givenname: Elena surname: Gardella fullname: Gardella, Elena email: elga@filadelfia.dk organization: University of Southern Denmark – sequence: 3 givenname: Tarja surname: Linnankivi fullname: Linnankivi, Tarja organization: University of Helsinki – sequence: 4 givenname: Carolina surname: Courage fullname: Courage, Carolina organization: Molecular Neurology and Neuroscience Center – sequence: 5 givenname: Anne surname: Saint Martin fullname: Saint Martin, Anne organization: Reference Center for Rare Epilepsies – sequence: 6 givenname: Anna‐Elina surname: Lehesjoki fullname: Lehesjoki, Anna‐Elina organization: Molecular Neurology and Neuroscience Center – sequence: 7 givenname: Cyril surname: Mignot fullname: Mignot, Cyril organization: Center for Rare causes of Intellectual Disabilities and UPMC Research Group “Intellectual Disabilities and Autism” – sequence: 8 givenname: Alexandra surname: Afenjar fullname: Afenjar, Alexandra organization: Hospital Trousseau – sequence: 9 givenname: Gaetan surname: Lesca fullname: Lesca, Gaetan organization: INSERM U1028 – sequence: 10 givenname: Marie‐Thérèse surname: Abi‐Warde fullname: Abi‐Warde, Marie‐Thérèse organization: Reference Center for Rare Epilepsies – sequence: 11 givenname: Jamel surname: Chelly fullname: Chelly, Jamel organization: Hôpitaux Universitaires de Strasbourg – sequence: 12 givenname: Amélie surname: Piton fullname: Piton, Amélie organization: Hôpitaux Universitaires de Strasbourg – sequence: 13 givenname: J. Lawrence surname: Merritt fullname: Merritt, J. Lawrence organization: University of Washington – sequence: 14 givenname: Lance H. surname: Rodan fullname: Rodan, Lance H. organization: Harvard Medical School – sequence: 15 givenname: Wen‐Hann surname: Tan fullname: Tan, Wen‐Hann organization: Harvard Medical School – sequence: 16 givenname: Lynne M. surname: Bird fullname: Bird, Lynne M. organization: University of California San Diego – sequence: 17 givenname: Mark surname: Nespeca fullname: Nespeca, Mark organization: University of California – sequence: 18 givenname: Joseph G. surname: Gleeson fullname: Gleeson, Joseph G. organization: University of California – sequence: 19 givenname: Yongjin surname: Yoo fullname: Yoo, Yongjin organization: Seoul National University School of Medicine – sequence: 20 givenname: Murim surname: Choi fullname: Choi, Murim organization: Seoul National University School of Medicine – sequence: 21 givenname: Jong‐Hee surname: Chae fullname: Chae, Jong‐Hee organization: Seoul National University School of Medicine – sequence: 22 givenname: Desiree surname: Czapansky‐Beilman fullname: Czapansky‐Beilman, Desiree organization: Gillette Children's Specialty Healthcare – sequence: 23 givenname: Sara Chadwick surname: Reichert fullname: Reichert, Sara Chadwick organization: Children's Minnesota – sequence: 24 givenname: Manuela surname: Pendziwiat fullname: Pendziwiat, Manuela organization: University Medical Center Schleswig‐Holstein – sequence: 25 givenname: Judith S. surname: Verhoeven fullname: Verhoeven, Judith S. organization: Academic Center for Epileptology – sequence: 26 givenname: Helenius J. surname: Schelhaas fullname: Schelhaas, Helenius J. organization: Academic Center for Epileptology – sequence: 27 givenname: Orrin surname: Devinsky fullname: Devinsky, Orrin organization: NYU Epilepsy Center – sequence: 28 givenname: Jakob surname: Christensen fullname: Christensen, Jakob organization: Aarhus University Hospital – sequence: 29 givenname: Nicola surname: Specchio fullname: Specchio, Nicola organization: IRCCS – sequence: 30 givenname: Marina surname: Trivisano fullname: Trivisano, Marina organization: IRCCS – sequence: 31 givenname: Yvonne G. surname: Weber fullname: Weber, Yvonne G. organization: University of Tüebingen – sequence: 32 givenname: Caroline surname: Nava fullname: Nava, Caroline organization: ICM – sequence: 33 givenname: Boris surname: Keren fullname: Keren, Boris organization: ICM – sequence: 34 givenname: Diane surname: Doummar fullname: Doummar, Diane organization: Hospital Armand Trousseau – sequence: 35 givenname: Elise surname: Schaefer fullname: Schaefer, Elise organization: Hôpitaux Universitaires de Strasbourg – sequence: 36 givenname: Sarah surname: Hopkins fullname: Hopkins, Sarah organization: The Children's Hospital of Philadelphia – sequence: 37 givenname: Holly surname: Dubbs fullname: Dubbs, Holly organization: Columbia University Medical Center – sequence: 38 givenname: Jessica E. surname: Shaw fullname: Shaw, Jessica E. organization: Columbia University Medical Center – sequence: 39 givenname: Laura surname: Pisani fullname: Pisani, Laura organization: Columbia University Medical Center – sequence: 40 givenname: Candace T. surname: Myers fullname: Myers, Candace T. organization: University of Washington – sequence: 41 givenname: Sha surname: Tang fullname: Tang, Sha organization: Ambry Genetics – sequence: 42 givenname: Shan surname: Tang fullname: Tang, Shan organization: King's College London – sequence: 43 givenname: Deb K. surname: Pal fullname: Pal, Deb K. organization: King's College London – sequence: 44 givenname: John J. surname: Millichap fullname: Millichap, John J. organization: Northwestern University Feinberg School of Medicine – sequence: 45 givenname: Gemma L. surname: Carvill fullname: Carvill, Gemma L. organization: Northwestern University Feinberg School of Medicine – sequence: 46 givenname: Kathrine L. surname: Helbig fullname: Helbig, Kathrine L. organization: Ambry Genetics – sequence: 47 givenname: Oriano surname: Mecarelli fullname: Mecarelli, Oriano organization: University of Sapeinza – sequence: 48 givenname: Pasquale orcidid: 0000-0002-6065-1476 surname: Striano fullname: Striano, Pasquale organization: University of Genoa ‘G. Gaslini” Institute – sequence: 49 givenname: Ingo surname: Helbig fullname: Helbig, Ingo organization: The Children's Hospital of Philadelphia – sequence: 50 givenname: Guido orcidid: 0000-0002-5309-2514 surname: Rubboli fullname: Rubboli, Guido organization: University of Copenhagen – sequence: 51 givenname: Heather C. surname: Mefford fullname: Mefford, Heather C. organization: University of Washington – sequence: 52 givenname: Rikke S. surname: Møller fullname: Møller, Rikke S. email: rimo@filadelfia.dk organization: University of Southern Denmark |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/29315614$$D View this record in MEDLINE/PubMed https://hal.sorbonne-universite.fr/hal-01973517$$DView record in HAL |
| BookMark | eNp9kU9v3CAQxVGVqtkkPfQLVJZyaQ5OGGMwXCKttmkTaaVWSntGmI6zRDY4xk61375sNn_alVIuIPjNm8e8A7Lng0dCPgA9hbTOsHenwJQUb8gMeCFzAFHtkRmlwHLFJd0nBzHeUkorUbF3ZL9QDLiAckbKz9g47_xNNq4w61fow7junc1ij3Ycpi4LTXa9XIg5ZN00mtEFH4_I28a0Ed8_7ofk55eLH4vLfPnt69VivswtL5nIa25QgQGKpaWyAYUS-OZcq9paVoiiSB6Kqq6lFZY1lJUlLxijpmQbg-yQnG91-6nu8JdFPw6m1f3gOjOsdTBO__vi3UrfhHvNFRRCyiRwshVY7ZRdzpd6c0dBVYxDdQ-J_fTYbAh3E8ZRdy5abFvjMUxRg5KKc8mAJvR4B70N0-DTKBKlSs6ZrFSiPv7t_rn_0_Bf3NkhxDhg84wA1ZtgdQpWPwSb2LMd1rptGunjrv1fxW_X4vp1aX3x_Wpb8QdAHbDE |
| CitedBy_id | crossref_primary_10_1093_brain_awab391 crossref_primary_10_1111_epi_14531 crossref_primary_10_1093_brain_awad292 crossref_primary_10_1002_ana_25350 crossref_primary_10_1016_j_yebeh_2024_109636 crossref_primary_10_1212_WNL_0000000000207945 crossref_primary_10_3389_fneur_2022_1013903 crossref_primary_10_1186_s11689_022_09449_7 crossref_primary_10_1038_s41598_020_72101_8 crossref_primary_10_2147_IMCRJ_S390636 crossref_primary_10_3389_fnmol_2020_570640 crossref_primary_10_1016_j_expneurol_2019_112973 crossref_primary_10_1016_j_nrleng_2018_10_023 crossref_primary_10_3390_genes13050872 crossref_primary_10_1136_jmedgenet_2021_107694 crossref_primary_10_1016_j_ejmg_2022_104636 crossref_primary_10_3390_ijms24020955 crossref_primary_10_3389_fnins_2023_1219262 crossref_primary_10_1007_s00705_020_04617_3 crossref_primary_10_3389_fgene_2024_1352480 crossref_primary_10_1093_brain_awab182 crossref_primary_10_1093_nar_gkad604 crossref_primary_10_1016_j_expneurol_2021_113723 crossref_primary_10_1111_epi_18209 crossref_primary_10_1016_j_nrl_2018_10_006 crossref_primary_10_1016_j_pediatrneurol_2024_03_030 crossref_primary_10_1172_JCI182235 crossref_primary_10_3892_mmr_2020_10999 crossref_primary_10_1186_s13041_020_00612_6 crossref_primary_10_3389_fgene_2021_680548 crossref_primary_10_1016_j_clineuro_2024_108673 crossref_primary_10_3389_fncel_2020_00009 crossref_primary_10_1186_s42494_023_00118_3 crossref_primary_10_4103_jpn_JPN_2_19 crossref_primary_10_1016_j_ajhg_2024_04_021 crossref_primary_10_1021_acsptsci_4c00494 crossref_primary_10_1101_mcs_a005371 crossref_primary_10_1016_j_seizure_2019_07_024 crossref_primary_10_1093_braincomms_fcae110 crossref_primary_10_1016_j_ajhg_2021_04_009 crossref_primary_10_1016_j_nbd_2022_105810 crossref_primary_10_1212_WNL_0000000000011854 crossref_primary_10_1080_14737159_2019_1573144 crossref_primary_10_1016_j_ebiom_2021_103588 crossref_primary_10_1002_epi4_12417 crossref_primary_10_3389_fnins_2023_1024388 crossref_primary_10_1186_s12881_020_01035_9 crossref_primary_10_31083_j_jin2309181 crossref_primary_10_1016_j_ejpn_2021_11_009 crossref_primary_10_1016_j_neurol_2024_01_002 crossref_primary_10_1186_s12863_018_0628_5 crossref_primary_10_3389_fneur_2021_653517 crossref_primary_10_1212_WNL_0000000000012744 crossref_primary_10_1007_s12035_020_02160_5 crossref_primary_10_3389_fnins_2023_1219244 crossref_primary_10_1016_j_ejpn_2025_01_003 crossref_primary_10_1093_brain_awz195 crossref_primary_10_3389_fneur_2022_805007 crossref_primary_10_1016_j_cell_2019_12_036 crossref_primary_10_1016_j_ejmg_2022_104570 crossref_primary_10_1093_brain_awab207 crossref_primary_10_1093_braincomms_fcac144 crossref_primary_10_3389_fnins_2023_1216653 crossref_primary_10_1002_epd2_20175 crossref_primary_10_1093_braincomms_fcac220 crossref_primary_10_1212_NXG_0000000000200136 crossref_primary_10_3389_fnins_2023_1215684 crossref_primary_10_1016_j_pharmthera_2020_107785 crossref_primary_10_3389_fnins_2022_1026065 crossref_primary_10_1016_j_eplepsyres_2025_107514 crossref_primary_10_1093_brain_awaa072 crossref_primary_10_1186_s12014_024_09485_6 crossref_primary_10_1016_S1474_4422_25_00032_8 crossref_primary_10_1093_braincomms_fcaa170 crossref_primary_10_3389_fneur_2021_661408 crossref_primary_10_3389_fped_2024_1492062 crossref_primary_10_1159_000515434 crossref_primary_10_1016_j_braindev_2023_03_001 crossref_primary_10_3390_encyclopedia3020027 crossref_primary_10_1212_WNL_0000000000012574 crossref_primary_10_1111_epi_17651 crossref_primary_10_3389_fnmol_2024_1466694 crossref_primary_10_1186_s13052_018_0491_z crossref_primary_10_1155_2024_8390463 crossref_primary_10_1111_cge_14023 crossref_primary_10_1371_journal_pone_0258766 crossref_primary_10_1093_brain_awaa029 crossref_primary_10_1038_s41583_021_00443_x crossref_primary_10_1111_dmcn_15308 crossref_primary_10_1186_s40246_024_00659_9 crossref_primary_10_1134_S1819712421040048 crossref_primary_10_1002_mdc3_13106 |
| Cites_doi | 10.1016/S0387-7604(01)00281-9 10.1038/nm.2058 10.1007/s11064-014-1494-9 10.3389/fendo.2013.00165 10.1017/neu.2015.37 10.1111/j.1469-1809.2006.00332.x 10.1155/2010/479364 10.1038/gim.2015.155 10.1002/ajmg.a.36761 10.1111/epi.13709 10.1016/j.pnpbp.2017.04.015 10.1097/00004691-200311000-00007 10.1038/nature10945 10.1111/epi.13670 10.1111/epi.13222 10.1016/S0140-6736(12)61480-9 10.1016/j.ajhg.2008.04.020 10.1016/j.ajhg.2015.02.016 10.3389/fncel.2014.00161 |
| ContentType | Journal Article |
| Copyright | Wiley Periodicals, Inc. © 2018 International League Against Epilepsy Wiley Periodicals, Inc. © 2018 International League Against Epilepsy. Copyright © 2018 International League Against Epilepsy Distributed under a Creative Commons Attribution 4.0 International License |
| Copyright_xml | – notice: Wiley Periodicals, Inc. © 2018 International League Against Epilepsy – notice: Wiley Periodicals, Inc. © 2018 International League Against Epilepsy. – notice: Copyright © 2018 International League Against Epilepsy – notice: Distributed under a Creative Commons Attribution 4.0 International License |
| DBID | AAYXX CITATION CGR CUY CVF ECM EIF NPM 7TK 7X8 1XC VOOES 5PM |
| DOI | 10.1111/epi.13986 |
| DatabaseName | CrossRef Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed Neurosciences Abstracts MEDLINE - Academic Hyper Article en Ligne (HAL) Hyper Article en Ligne (HAL) (Open Access) PubMed Central (Full Participant titles) |
| DatabaseTitle | CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) Neurosciences Abstracts MEDLINE - Academic |
| DatabaseTitleList | MEDLINE MEDLINE - Academic Neurosciences Abstracts |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine |
| EISSN | 1528-1167 |
| EndPage | 402 |
| ExternalDocumentID | PMC5912688 oai_HAL_hal_01973517v1 29315614 10_1111_epi_13986 EPI13986 |
| Genre | article Research Support, Non-U.S. Gov't Journal Article |
| GrantInformation_xml | – fundername: SNSF Early Postdoc fellowship – fundername: Ambry Genetics – fundername: Deutsche Forschungsgemeinschaft funderid: We4896/3‐1; He5415/6‐1 – fundername: Medical Research Council grantid: MR/J011231/1 – fundername: NINDS NIH HHS grantid: R01 NS069605 – fundername: Medical Research Council grantid: MR/N026063/1 |
| GroupedDBID | --- .3N .55 .GA .GJ .Y3 05W 0R~ 10A 1OB 1OC 29G 2WC 31~ 33P 36B 3SF 4.4 50Y 50Z 51W 51X 52M 52N 52O 52P 52R 52S 52T 52U 52V 52W 52X 53G 5GY 5HH 5LA 5RE 5VS 66C 702 7PT 8-0 8-1 8-3 8-4 8-5 8UM 930 A01 A03 AAESR AAEVG AAFWJ AAGKA AAHQN AAIPD AAMMB AAMNL AANHP AANLZ AAONW AASGY AAXRX AAYCA AAZKR ABCQN ABCUV ABEML ABIVO ABJNI ABLJU ABPVW ABQWH ABXGK ACAHQ ACBWZ ACCZN ACGFO ACGFS ACGOF ACMXC ACPOU ACPRK ACRPL ACSCC ACXBN ACXQS ACYXJ ADBBV ADBTR ADEOM ADIZJ ADKYN ADMGS ADNMO ADOZA ADXAS ADZMN AEFGJ AEIGN AEIMD AENEX AEUYR AEYWJ AFBPY AFEBI AFFPM AFGKR AFWVQ AFZJQ AGHNM AGQPQ AGXDD AGYGG AHBTC AHEFC AI. AIACR AIAGR AIDQK AIDYY AIQQE AITYG AIURR ALAGY ALMA_UNASSIGNED_HOLDINGS ALUQN ALVPJ AMBMR AMYDB ASPBG ATUGU AVWKF AZBYB AZFZN AZVAB BAFTC BAWUL BDRZF BFHJK BHBCM BMXJE BROTX BRXPI BY8 C45 CAG COF CS3 D-6 D-7 D-E D-F DCZOG DIK DPXWK DR2 DRFUL DRMAN DRSTM DU5 E3Z EBS EJD EMOBN EX3 F00 F01 F04 F5P FEDTE FIJ FUBAC FYBCS G-S G.N GODZA H.X HF~ HGLYW HVGLF HZI HZ~ IHE IX1 J0M K48 KBYEO LATKE LC2 LC3 LEEKS LH4 LITHE LOXES LP6 LP7 LUTES LW6 LYRES MEWTI MK4 MRFUL MRMAN MRSTM MSFUL MSMAN MSSTM MXFUL MXMAN MXSTM N04 N05 N9A NF~ O66 O9- OHT OIG OK1 OVD P2P P2W P2X P2Z P4B P4D PALCI Q.N Q11 QB0 R.K RIWAO RJQFR ROL RX1 SAMSI SUPJJ TEORI TR2 UB1 V8K V9Y VH1 W8V W99 WBKPD WHWMO WIH WIJ WIK WIN WOHZO WOW WQJ WVDHM WXI WXSBR X7M XG1 YFH YOC YUY ZGI ZXP ZZTAW ~IA ~WT AAHHS AAYXX ACCFJ ADZOD AEEZP AEQDE AIWBW AJBDE CITATION CGR CUY CVF ECM EIF NPM 7TK 7X8 1XC VOOES 5PM |
| ID | FETCH-LOGICAL-c5436-b5ae91a10e4c08f19e815e4c0b9bcc3262261427bb8c6c3f034452330a4393153 |
| IEDL.DBID | DR2 |
| ISSN | 0013-9580 1528-1167 |
| IngestDate | Thu Aug 21 18:32:00 EDT 2025 Fri Sep 12 12:50:02 EDT 2025 Fri Jul 11 06:40:36 EDT 2025 Fri Jul 25 12:26:45 EDT 2025 Mon Jul 21 06:05:33 EDT 2025 Tue Jul 01 03:17:52 EDT 2025 Thu Apr 24 22:59:15 EDT 2025 Sun Sep 21 06:28:17 EDT 2025 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 2 |
| Keywords | MAE epilepsy epilepsy genetics SLC6A1 |
| Language | English |
| License | http://onlinelibrary.wiley.com/termsAndConditions#vor Wiley Periodicals, Inc. © 2018 International League Against Epilepsy. Distributed under a Creative Commons Attribution 4.0 International License: http://creativecommons.org/licenses/by/4.0 |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c5436-b5ae91a10e4c08f19e815e4c0b9bcc3262261427bb8c6c3f034452330a4393153 |
| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 Johannesen and Gardella contributed equally to this paper |
| ORCID | 0000-0002-6065-1476 0000-0002-5309-2514 0000-0002-7138-6022 0000-0003-0408-7468 0000-0001-7691-9492 0000-0002-0889-9220 0000-0001-6172-8247 0000-0003-1272-0518 0000-0002-0939-8719 0000-0002-9664-1448 |
| OpenAccessLink | https://hal.sorbonne-universite.fr/hal-01973517 |
| PMID | 29315614 |
| PQID | 1994553879 |
| PQPubID | 1066359 |
| PageCount | 14 |
| ParticipantIDs | pubmedcentral_primary_oai_pubmedcentral_nih_gov_5912688 hal_primary_oai_HAL_hal_01973517v1 proquest_miscellaneous_1989558310 proquest_journals_1994553879 pubmed_primary_29315614 crossref_primary_10_1111_epi_13986 crossref_citationtrail_10_1111_epi_13986 wiley_primary_10_1111_epi_13986_EPI13986 |
| ProviderPackageCode | CITATION AAYXX |
| PublicationCentury | 2000 |
| PublicationDate | February 2018 |
| PublicationDateYYYYMMDD | 2018-02-01 |
| PublicationDate_xml | – month: 02 year: 2018 text: February 2018 |
| PublicationDecade | 2010 |
| PublicationPlace | United States |
| PublicationPlace_xml | – name: United States – name: Hoboken |
| PublicationTitle | Epilepsia (Copenhagen) |
| PublicationTitleAlternate | Epilepsia |
| PublicationYear | 2018 |
| Publisher | Wiley Subscription Services, Inc Wiley |
| Publisher_xml | – name: Wiley Subscription Services, Inc – name: Wiley |
| References | 1992; 6 2015; 56 2013; 4 2012; 485 2015; 27 2010; 2010 2015; 18 2017; 58 2015; 40 2014; 164a 2017; 77 2015; 96 2012; 380 2007; 71 2014; 8 2001; 23 2008; 82 2003; 20 2009; 15 e_1_2_9_20_1 Doose H (e_1_2_9_16_1) 1992; 6 e_1_2_9_11_1 e_1_2_9_10_1 e_1_2_9_21_1 e_1_2_9_13_1 e_1_2_9_12_1 e_1_2_9_8_1 e_1_2_9_7_1 e_1_2_9_6_1 e_1_2_9_5_1 e_1_2_9_4_1 e_1_2_9_3_1 e_1_2_9_2_1 e_1_2_9_9_1 e_1_2_9_15_1 e_1_2_9_14_1 e_1_2_9_17_1 e_1_2_9_19_1 e_1_2_9_18_1 |
| References_xml | – volume: 6 start-page: 163 year: 1992 end-page: 8 article-title: Myoclonic‐astatic epilepsy publication-title: Epilepsy Res Suppl. – volume: 20 start-page: 449 year: 2003 end-page: 61 article-title: Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic‐astatic epilepsy) publication-title: J Clin Neurophysiol. – volume: 27 start-page: 368 year: 2015 end-page: 74 article-title: Hyperactivity and impaired attention in Gamma aminobutyric acid transporter subtype 1 gene knockout mice publication-title: Acta Neuropsychiatr – volume: 164a start-page: 3061 year: 2014 end-page: 8 article-title: 3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior publication-title: Am J Med Genet A – volume: 485 start-page: 237 year: 2012 end-page: 41 article-title: De novo mutations revealed by whole‐exome sequencing are strongly associated with autism publication-title: Nature – volume: 96 start-page: 808 year: 2015 end-page: 15 article-title: Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic‐atonic seizures publication-title: Am J Hum Genet – volume: 18 start-page: 746 year: 2015 end-page: 9 article-title: Mosaic mutations in early‐onset genetic diseases publication-title: Genet Med – volume: 40 start-page: 410 year: 2015 end-page: 9 article-title: The subcellular localization of GABA transporters and its implication for seizure management publication-title: Neurochem Res – volume: 23 start-page: 757 year: 2001 end-page: 64 article-title: Myoclonic‐astatic epilepsy of early childhood–clinical and EEG analysis of myoclonic‐astatic seizures, and discussions on the nosology of the syndrome publication-title: Brain Dev – volume: 2010 year: 2010 article-title: Molecular and Therapeutic Potential and Toxicity of Valproic Acid publication-title: J Biomed Biotechnol – volume: 82 start-page: 1249 year: 2008 end-page: 61 article-title: Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy publication-title: Am J Hum Genet – volume: 58 start-page: 512 year: 2017 end-page: 21 article-title: ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology publication-title: Epilepsia – volume: 77 start-page: 202 year: 2017 end-page: 8 article-title: SLC6A1 gene involvement in susceptibility to attention‐deficit/hyperactivity disorder: A case‐control study and gene‐environment interaction publication-title: Prog Neuropsychopharmacol Biol Psychiatry – volume: 56 start-page: e203 year: 2015 end-page: 8 article-title: The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome publication-title: Epilepsia – volume: 4 start-page: 165 year: 2013 article-title: GABA and glutamate transporters in brain publication-title: Front Endocrinol (Lausanne) – volume: 58 start-page: 522 year: 2017 end-page: 30 article-title: Operational classification of seizure types by the International League Against Epilepsy: position paper of the ILAE Commission for Classification and Terminology publication-title: Epilepsia – volume: 71 start-page: 325 year: 2007 end-page: 35 article-title: Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population publication-title: Ann Hum Genet – volume: 380 start-page: 1674 year: 2012 end-page: 82 article-title: Range of genetic mutations associated with severe non‐syndromic sporadic intellectual disability: an exome sequencing study publication-title: Lancet – volume: 8 start-page: 161 year: 2014 article-title: Structure, function, and plasticity of GABA transporters publication-title: Front Cell Neurosci – volume: 15 start-page: 1392 year: 2009 end-page: 8 article-title: Enhanced tonic GABAA inhibition in typical absence epilepsy publication-title: Nat Med – ident: e_1_2_9_20_1 doi: 10.1016/S0387-7604(01)00281-9 – ident: e_1_2_9_5_1 doi: 10.1038/nm.2058 – ident: e_1_2_9_2_1 doi: 10.1007/s11064-014-1494-9 – ident: e_1_2_9_3_1 doi: 10.3389/fendo.2013.00165 – ident: e_1_2_9_14_1 doi: 10.1017/neu.2015.37 – ident: e_1_2_9_19_1 doi: 10.1111/j.1469-1809.2006.00332.x – ident: e_1_2_9_21_1 doi: 10.1155/2010/479364 – ident: e_1_2_9_9_1 doi: 10.1038/gim.2015.155 – ident: e_1_2_9_6_1 doi: 10.1002/ajmg.a.36761 – ident: e_1_2_9_12_1 doi: 10.1111/epi.13709 – ident: e_1_2_9_15_1 doi: 10.1016/j.pnpbp.2017.04.015 – ident: e_1_2_9_11_1 doi: 10.1097/00004691-200311000-00007 – ident: e_1_2_9_8_1 doi: 10.1038/nature10945 – ident: e_1_2_9_13_1 doi: 10.1111/epi.13670 – ident: e_1_2_9_17_1 doi: 10.1111/epi.13222 – ident: e_1_2_9_7_1 doi: 10.1016/S0140-6736(12)61480-9 – ident: e_1_2_9_18_1 doi: 10.1016/j.ajhg.2008.04.020 – ident: e_1_2_9_10_1 doi: 10.1016/j.ajhg.2015.02.016 – volume: 6 start-page: 163 year: 1992 ident: e_1_2_9_16_1 article-title: Myoclonic‐astatic epilepsy publication-title: Epilepsy Res Suppl. – ident: e_1_2_9_4_1 doi: 10.3389/fncel.2014.00161 |
| SSID | ssj0007673 |
| Score | 2.554598 |
| Snippet | Summary
Objective
Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set... Pathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the... ObjectivePathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to... |
| SourceID | pubmedcentral hal proquest pubmed crossref wiley |
| SourceType | Open Access Repository Aggregation Database Index Database Enrichment Source Publisher |
| StartPage | 389 |
| SubjectTerms | Adolescent Adult Anticonvulsants - therapeutic use Ataxia Ataxia - complications Ataxia - genetics Ataxia - physiopathology Child Child, Preschool Cognitive ability Cohort Studies Convulsions & seizures EEG Electroencephalography Epilepsies, Myoclonic - complications Epilepsies, Myoclonic - drug therapy Epilepsies, Myoclonic - genetics Epilepsies, Myoclonic - physiopathology Epilepsies, Partial - complications Epilepsies, Partial - drug therapy Epilepsies, Partial - genetics Epilepsies, Partial - physiopathology Epilepsy epilepsy genetics Epilepsy, Generalized - complications Epilepsy, Generalized - drug therapy Epilepsy, Generalized - genetics Epilepsy, Generalized - physiopathology Female GABA Plasma Membrane Transport Proteins - genetics Genetic Association Studies Genetics Human genetics Humans Intellectual Disability - complications Intellectual Disability - genetics Intellectual Disability - physiopathology Language Language Development Disorders - complications Language Development Disorders - genetics Language Development Disorders - physiopathology Life Sciences MAE Male Mutation Mutation, Missense Neurodevelopmental Disorders - complications Neurodevelopmental Disorders - genetics Phenotype Phenotypes Seizures SLC6A1 Sleep Speech Treatment Outcome Valproic acid Valproic Acid - therapeutic use Young Adult |
| Title | Defining the phenotypic spectrum of SLC6A1 mutations |
| URI | https://onlinelibrary.wiley.com/doi/abs/10.1111%2Fepi.13986 https://www.ncbi.nlm.nih.gov/pubmed/29315614 https://www.proquest.com/docview/1994553879 https://www.proquest.com/docview/1989558310 https://hal.sorbonne-universite.fr/hal-01973517 https://pubmed.ncbi.nlm.nih.gov/PMC5912688 |
| Volume | 59 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1JT9wwFH4CDhUXugKhFAXUQy8zipN4E6cRi4YWqopF4oAUxcYRI0pmxMxUKr--7zlLGRYJcbPiFyW232d_tp8_A3zVwkSpQaS5aummkAgph3C3l9LGhinjF3OOfor-Wfr9nJ_PwXZzFqbSh2gX3AgZvr8mgOdmfA_kbjToIn1RJLfNEkG6-bvH_6WjpKh3l1nS0VxFtaoQRfG0b86MRfNXFAn5mGY-jpa8z2L9MLT_Fi6aAlTRJ9fd6cR07d0DbcdXlvAdLNX0NOxV_vQe5lz5Ad4c1RvwHyHddYW_UiJE4hhSfNhw8nc0sKE_sXk7vQmHRXhyuCN6LLyZVtv8409wtr93utPv1BcvdCxPE9ExPHea5SxyqY1UwbRTjFPaaGMtEj7kbCyNpTHKCpsUJBuIE9okypHeJNiHLsNCOSzdKoQSZ2D6Umilcpzo6UKbOGexzROjI1dwF8C3pgkyW6uS0-UYv7NmdoK1kPlaCGCrNR1VUhxPGmE7tvkknt3vHWb0DMmsTDiTf1gA600zZzVkxxmJJHPs_qUOYLPNRrDRDkpeuuGUbJTmnO5mC2Cl8or2UzGVHKslADnjLzP_MptTDq68oDfXLBZKYV14d3i-dNnerwOfWHu56WdYRJKnqkjzdVhAX3BfkEhNzAYi5uDHhsfNP2m8Fys |
| linkProvider | Wiley-Blackwell |
| linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1LT9wwEB7xkFouUPoM0BKqHnrZVZzEL4nLioKWsouqFiQuVRQbR6wo2RXsViq_nhnnURZaqerNih0ltuezP3vGnwE-aGGi1CDSXLV1U0iElEO423NpY8OU8Zs5w2PRP00_n_GzBdhtzsJU-hDthhshw4_XBHDakL6HcjcZdZG_KLEIy94_R5To62_xKClq_zJLOpqrqNYVojie9tW52WjxgmIhHxPNx_GS93msn4gO1uB7U4Uq_uSyO5uarr19oO74v3V8Bqs1Qw17lUmtw4Irn8OTYe2DfwHpJ1f4WyVC5I4hhYiNp78mIxv6Q5vXs6twXITfBnuix8KrWeXpv3kJpwf7J3v9Tn33QsfyNBEdw3OnWc4il9pIFUw7xTiljTbWIudD2sbSWBqjrLBJQcqBuKZNohwZToLD6CtYKselewOhxEWYPhdaqRzXerrQJs5ZbPPE6MgV3AXwsemDzNbC5HQ_xo-sWaBgK2S-FQJ43xadVGocfyyEHdnmk352vzfI6BnyWZlwJn-yALaafs5q1N5kpJPMcQaQOoCdNhvxRk6UvHTjGZVRmnO6ni2A15VZtJ-KqebYLAHIOYOZ-5f5nHJ04TW9uWaxUArbwtvD32uX7X859ImNfy-6DU_7J8NBNjg8PtqEFeR8qgo834IltAv3FnnV1Lzz8LkDP3waUA |
| linkToPdf | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1dT9swFL0CJiFeGIONBQoLaA-8tIqT-Es8VYWqjIIQA4mHSVHsOqIapBW0k7Zfz7XzAQUmId6i-EaO7XvsY_v6GOC7ZCqIFSLNFEs3GUdIGYS7HnAdKiKUW8w5OWW9y_jHFb2ag_3qLEyhD1EvuFlkuP7aAnw8yJ6A3IyHLaQvgs3Dh5hhTpYRnT9qR3FWbi-TqCmpCEpZIRvGU386MxjNX9tQyJc882W45FMa68ah7kf4VZWgCD_53ZpOVEv_eybu-M4irsByyU_9duFQn2DO5KuweFLuwK9BfGAyd6eEj8zRtwFio8nf8VD77sjm3fTWH2X-z36HtYl_Oy32-e8_w2X38KLTa5Y3LzQ1jSPWVDQ1kqQkMLEOREakEYTaZyWV1sj4kLSROORKCc10lFndQJzRRkGK_CbCTvQLLOSj3HwFn-MUTA6YFCLFmZ7MpApTEuo0UjIwGTUe7FVNkOhSltzejnGTVNMTrIXE1YIHu7XpuNDieNUI27FOt-rZvXY_se-QzfKIEv6HeNComjkpMXufWJVkiv0_lx7s1MmINruFkuZmNLU2QlJqL2fzYL3wijqr0JYcq8UDPuMvM_8ym5IPr52iN5UkZEJgXTh3-H_pksOzI_ew8XbTb7B4dtBN-kenx5uwhIRPFFHnDVhAtzBbSKomatuB5wHbTBj_ |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Defining+the+phenotypic+spectrum+of+SLC6A1+mutations&rft.jtitle=Epilepsia+%28Copenhagen%29&rft.au=Johannesen%2C+Katrine+M.&rft.au=Gardella%2C+Elena&rft.au=Linnankivi%2C+Tarja&rft.au=Courage%2C+Carolina&rft.date=2018-02-01&rft.issn=0013-9580&rft.eissn=1528-1167&rft.volume=59&rft.issue=2&rft.spage=389&rft.epage=402&rft_id=info:doi/10.1111%2Fepi.13986&rft_id=info%3Apmid%2F29315614&rft.externalDocID=PMC5912688 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0013-9580&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0013-9580&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0013-9580&client=summon |