Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures
Pressler, Ronit M., Cilio, Maria Roberta, Mizrahi, Eli M., Moshé, Solomon L., Nunes, Magda L., Plouin, Perrine, Vanhatalo, Sampsa, Yozawitz, Elissa, de Vries, Linda S., Puthenveettil Vinayan, Kollencheri, Triki, Chahnez C., Wilmshurst, Jo M., Yamamoto, Hitoshi, Zuberi, Sameer M.
Published in Epilepsia (Copenhagen) (01.03.2021)
Published in Epilepsia (Copenhagen) (01.03.2021)
Get full text
Journal Article
Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial
Devinsky, Orrin, Marsh, Eric, Friedman, Daniel, Thiele, Elizabeth, Laux, Linda, Sullivan, Joseph, Miller, Ian, Flamini, Robert, Wilfong, Angus, Filloux, Francis, Wong, Matthew, Tilton, Nicole, Bruno, Patricia, Bluvstein, Judith, Hedlund, Julie, Kamens, Rebecca, Maclean, Jane, Nangia, Srishti, Singhal, Nilika Shah, Wilson, Carey A, Patel, Anup, Cilio, Maria Roberta
Published in Lancet neurology (01.03.2016)
Published in Lancet neurology (01.03.2016)
Get full text
Journal Article
Cannabidiol: Pharmacology and potential therapeutic role in epilepsy and other neuropsychiatric disorders
Devinsky, Orrin, Cilio, Maria Roberta, Cross, Helen, Fernandez‐Ruiz, Javier, French, Jacqueline, Hill, Charlotte, Katz, Russell, Di Marzo, Vincenzo, Jutras‐Aswad, Didier, Notcutt, William George, Martinez‐Orgado, Jose, Robson, Philip J., Rohrback, Brian G., Thiele, Elizabeth, Whalley, Benjamin, Friedman, Daniel
Published in Epilepsia (Copenhagen) (01.06.2014)
Published in Epilepsia (Copenhagen) (01.06.2014)
Get full text
Journal Article
Genotype–phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of Kᵥ7.2 potassium channel subunits
Miceli, Francesco, Soldovieri, Maria Virginia, Ambrosino, Paolo, Barrese, Vincenzo, Migliore, Michele, Cilio, Maria Roberta, Taglialatela, Maurizio
Published in Proceedings of the National Academy of Sciences - PNAS (12.03.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (12.03.2013)
Get full text
Journal Article
Early and effective treatment of KCNQ2 encephalopathy
Pisano, Tiziana, Numis, Adam L., Heavin, Sinéad B., Weckhuysen, Sarah, Angriman, Marco, Suls, Arvid, Podesta, Barbara, Thibert, Ronald L., Shapiro, Kevin A., Guerrini, Renzo, Scheffer, Ingrid E., Marini, Carla, Cilio, Maria Roberta
Published in Epilepsia (Copenhagen) (01.05.2015)
Published in Epilepsia (Copenhagen) (01.05.2015)
Get full text
Journal Article
The case for assessing cannabidiol in epilepsy
Cilio, Maria Roberta, Thiele, Elizabeth A., Devinsky, Orrin
Published in Epilepsia (Copenhagen) (01.06.2014)
Published in Epilepsia (Copenhagen) (01.06.2014)
Get full text
Journal Article
Response to antiseizure medications in neonates with acute symptomatic seizures
Glass, Hannah C., Soul, Janet S., Chu, Catherine J., Massey, Shavonne L., Wusthoff, Courtney J., Chang, Taeun, Cilio, Maria Roberta, Bonifacio, Sonia L., Abend, Nicholas S., Thomas, Cameron, Lemmon, Monica, McCulloch, Charles E., Shellhaas, Renée A.
Published in Epilepsia (Copenhagen) (01.03.2019)
Published in Epilepsia (Copenhagen) (01.03.2019)
Get full text
Journal Article
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H
Mulkey, Sarah B., Ben‐Zeev, Bruria, Nicolai, Joost, Carroll, John L., Grønborg, Sabine, Jiang, Yong‐hui, Joshi, Nishtha, Kelly, Megan, Koolen, David. A., Mikati, Mohamad A., Park, Kristen, Pearl, Phillip L., Scheffer, Ingrid E., Spillmann, Rebecca C., Taglialatela, Maurizio, Vieker, Silvia, Weckhuysen, Sarah, Cooper, Edward C., Cilio, Maria Roberta
Published in Epilepsia (Copenhagen) (01.03.2017)
Published in Epilepsia (Copenhagen) (01.03.2017)
Get full text
Journal Article
Seizures and Magnetic Resonance Imaging–Detected Brain Injury in Newborns Cooled for Hypoxic-Ischemic Encephalopathy
Glass, Hannah C., Nash, Kendall B., Bonifacio, Sonia L., Barkovich, A. James, Ferriero, Donna M., Sullivan, Joseph E., Cilio, Maria Roberta
Published in The Journal of pediatrics (01.11.2011)
Published in The Journal of pediatrics (01.11.2011)
Get full text
Journal Article
Current understanding and neurobiology of epileptic encephalopathies
Auvin, Stéphane, Cilio, Maria Roberta, Vezzani, Annamaria
Published in Neurobiology of disease (01.08.2016)
Published in Neurobiology of disease (01.08.2016)
Get full text
Journal Article
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
Marini, Carla, Scheffer, Ingrid E., Nabbout, Rima, Mei, Davide, Cox, Kathy, Dibbens, Leanne M., McMahon, Jacinta M., Iona, Xenia, Carpintero, Rochio Sanchez, Elia, Maurizio, Cilio, Maria Roberta, Specchio, Nicola, Giordano, Lucio, Striano, Pasquale, Gennaro, Elena, Cross, J. Helen, Kivity, Sara, Neufeld, Miriam Y., Afawi, Zaid, Andermann, Eva, Keene, Daniel, Dulac, Olivier, Zara, Federico, Berkovic, Samuel F., Guerrini, Renzo, Mulley, John C.
Published in Epilepsia (Copenhagen) (01.07.2009)
Published in Epilepsia (Copenhagen) (01.07.2009)
Get full text
Journal Article
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders
Travaglini, Lorena, Brancati, Francesco, Silhavy, Jennifer, Iannicelli, Miriam, Nickerson, Elizabeth, Elkhartoufi, Nadia, Scott, Eric, Spencer, Emily, Gabriel, Stacey, Thomas, Sophie, Ben-Zeev, Bruria, Bertini, Enrico, Boltshauser, Eugen, Chaouch, Malika, Roberta Cilio, Maria, de Jong, Mirjam M, Kayserili, Hulya, Ogur, Gonul, Poretti, Andrea, Signorini, Sabrina, Uziel, Graziella, Zaki, Maha S, Johnson, Colin, Attié-Bitach, Tania, Gleeson, Joseph G, Valente, Enza Maria
Published in European journal of human genetics : EJHG (01.10.2013)
Published in European journal of human genetics : EJHG (01.10.2013)
Get full text
Journal Article
A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate
Miceli, Francesco, Carotenuto, Lidia, Barrese, Vincenzo, Soldovieri, Maria Virginia, Heinzen, Erin L., Mandel, Arthur M., Lippa, Natalie, Bier, Louise, Goldstein, David B., Cooper, Edward C., Cilio, Maria Roberta, Taglialatela, Maurizio, Sands, Tristan T.
Published in Frontiers in physiology (04.09.2020)
Published in Frontiers in physiology (04.09.2020)
Get full text
Journal Article
The Voltage-Sensing Domain of Kv7.2 Channels as a Molecular Target for Epilepsy-Causing Mutations and Anticonvulsants
Miceli, Francesco, Soldovieri, Maria Virginia, Iannotti, Fabio Arturo, Barrese, Vincenzo, Ambrosino, Paolo, Martire, Maria, Cilio, Maria Roberta, Taglialatela, Maurizio
Published in Frontiers in pharmacology (01.02.2011)
Published in Frontiers in pharmacology (01.02.2011)
Get full text
Journal Article
Mendelian Diseases among Roman Jews: Implications for the Origins of Disease Alleles
Oddoux, Carole, Guillen-Navarro, Encarnacion, DiTivoli, Claudio, DiCave Maria Roberta Cilio, Elvira, Clayton, C. Mark, Nelson, Holly, Sarafoglou, Kyriakie, McCain, Nicole, Peretz, Hava, Seligsohn, Uri, Luzzatto, Lucio, Nafa, Khedouja, Nardi, Michael, Karpatkin, Margaret, Aksentijevich, Ivona, Kastner, Daniel, Axelrod, Felicia, Ostrer, Harry
Published in The journal of clinical endocrinology and metabolism (01.12.1999)
Published in The journal of clinical endocrinology and metabolism (01.12.1999)
Get full text
Journal Article