STXBP1 Stop‐Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy

Saved in:
Bibliographic Details
Published inMovement disorders clinical practice (Hoboken, N.J.) Vol. 9; no. 6; pp. 837 - 840
Main Authors Spaull, Robert, Steel, Dora, Barwick, Katy, Prabhakar, Prab, Wakeling, Emma, Kurian, Manju A.
Format Journal Article
LanguageEnglish
Published Hoboken, USA John Wiley & Sons, Inc 01.08.2022
Wiley Subscription Services, Inc
Subjects
Letters: Genotype and Phenotype
movement disorder
stop‐loss
STXBP1
tremor
Online AccessGet full text
ISSN2330-1619
2330-1619
DOI10.1002/mdc3.13509

Cover

Author Barwick, Katy
Spaull, Robert
Wakeling, Emma
Steel, Dora
Kurian, Manju A.
Prabhakar, Prab
AuthorAffiliation 2 Department of Neurology Great Ormond Street Hospital London UK
3 North East Thames Regional Genetic Service Great Ormond Street Hospital for Children NHS Foundation Trust London UK
1 Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children UCL Great Ormond Street Institute of Child Health London UK
AuthorAffiliation_xml – name: 1 Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children UCL Great Ormond Street Institute of Child Health London UK
– name: 3 North East Thames Regional Genetic Service Great Ormond Street Hospital for Children NHS Foundation Trust London UK
– name: 2 Department of Neurology Great Ormond Street Hospital London UK
Author_xml – sequence: 1
  givenname: Robert
  orcidid: 0000-0003-4096-6945
  surname: Spaull
  fullname: Spaull, Robert
  organization: Great Ormond Street Hospital
– sequence: 2
  givenname: Dora
  surname: Steel
  fullname: Steel, Dora
  organization: Great Ormond Street Hospital
– sequence: 3
  givenname: Katy
  surname: Barwick
  fullname: Barwick, Katy
  organization: UCL Great Ormond Street Institute of Child Health
– sequence: 4
  givenname: Prab
  surname: Prabhakar
  fullname: Prabhakar, Prab
  organization: Great Ormond Street Hospital
– sequence: 5
  givenname: Emma
  surname: Wakeling
  fullname: Wakeling, Emma
  organization: Great Ormond Street Hospital for Children NHS Foundation Trust
– sequence: 6
  givenname: Manju A.
  orcidid: 0000-0003-3529-5075
  surname: Kurian
  fullname: Kurian, Manju A.
  email: manju.kurian@ucl.ac.uk
  organization: Great Ormond Street Hospital
BookMark eNp9kd9KHDEUxkOxVKve9AkCvSmFtfk7Y24Kdl3bwi4KWuhdyGROamRmMiYz2r3zEfqMfZJmHRErpVcncH7fx5fzvUZbXegAoTeUHFBC2Ie2tvyAcknUC7TDOCczWlC19eS9jfZTuiKEUCYLwugrtM2l4qVQxQ6qzi--fzqj-HwI_e-7X8uQEl6Ngxl86PBRSsF6M0CNb_1wieeh7Rv4iRcmNmt82iUY8CrcQAvdgI99CrGGeI-GccCL3jfQp_UeeulMk2D_Ye6ibyeLi_mX2fL089f50XJmBZNqZkshZc0LMLImFRPSOlJDBWXlpINSOaeodIw4qhzh4pALa0sLWWCVEpTwXfRx8u3HqoXa5lDRNLqPvjVxrYPx-u9N5y_1j3CjFRcFkyIbvHswiOF6hDTo1icLTWM6CGPSrFBKFZQcFhl9-wy9CmPs8vc2VMkypHim3k-UjfmuEdxjGEr0pj29aU_ft5dh8gy2fuohh_XNvyV0ktzmS6__Y65Xx3M-af4Aq8iuPg
CitedBy_id crossref_primary_10_1007_s10048_024_00752_0
crossref_primary_10_1007_s40278_022_24073_3
crossref_primary_10_3390_genes14122179
Cites_doi 10.1093/brain/awy046
10.1016/j.ejpn.2021.06.005
10.1038/ng.150
10.1038/ejhg.2010.183
10.1016/j.ejpn.2016.04.005
10.1093/brain/awab327
10.1038/nature19057
10.1212/WNL.0000000000002457
10.1002/ajmg.b.32816
10.1212/WNL.0000000000011543
ContentType Journal Article
Copyright 2022 The Authors. published by Wiley Periodicals LLC. on behalf of International Parkinson and Movement Disorder Society.
2022. This article is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.
Copyright_xml – notice: 2022 The Authors. published by Wiley Periodicals LLC. on behalf of International Parkinson and Movement Disorder Society.
– notice: 2022. This article is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.
DBID 24P
AAYXX
CITATION
K9.
7X8
5PM
DOI 10.1002/mdc3.13509
DatabaseName Wiley Online Library Open Access
CrossRef
ProQuest Health & Medical Complete (Alumni)
MEDLINE - Academic
PubMed Central (Full Participant titles)
DatabaseTitle CrossRef
ProQuest Health & Medical Complete (Alumni)
MEDLINE - Academic
Database_xml – sequence: 1
  dbid: 24P
  name: Wiley Online Library Open Access
  url: https://authorservices.wiley.com/open-science/open-access/browse-journals.html
  sourceTypes: Publisher
DeliveryMethod fulltext_linktorsrc
DocumentTitleAlternate STXBP1 Stop‐Loss with Movement Disorder
EISSN 2330-1619
EndPage 840
ExternalDocumentID PMC9346254
10_1002_mdc3_13509
MDC313509
Genre letter
GrantInformation_xml – fundername: Sir Jules Thorn Charitable Trust
– fundername: National Institute for Health and Care Research
  funderid: RP‐2016‐07‐019
– fundername: Rosetrees Trust
  funderid: M375‐F1
– fundername: ;
– fundername: ;
  grantid: M375‐F1
– fundername: ;
  grantid: RP‐2016‐07‐019
GroupedDBID 0R~
1OC
24P
33P
53G
AAESR
AAHHS
AAHQN
AAIPD
AAMNL
AANLZ
AAONW
AAYCA
AAZKR
ABCUV
ABDBF
ABQWH
ACCFJ
ACCZN
ACGFS
ACGOF
ACPOU
ACUHS
ACXQS
ADBBV
ADBTR
ADKYN
ADXAS
ADZMN
AEEZP
AEIGN
AEQDE
AEUYR
AFBPY
AFFPM
AFWVQ
AFZJQ
AHBTC
AITYG
AIURR
AIWBW
AJBDE
ALMA_UNASSIGNED_HOLDINGS
ALUQN
ALVPJ
AMYDB
AOIJS
AZBYB
AZVAB
BFHJK
BMXJE
BRXPI
DCZOG
EBS
EJD
G-S
GODZA
HGLYW
HYE
LATKE
LEEKS
LITHE
LOXES
LUTES
LYRES
MEWTI
MY~
O9-
OK1
P2W
PQQKQ
ROL
RPM
SUPJJ
WBKPD
WOHZO
WXSBR
ZZTAW
AAMMB
AAYXX
ABJNI
AEFGJ
AEYWJ
AGHNM
AGXDD
AGYGG
AIDQK
AIDYY
CITATION
K9.
7X8
5PM
ID FETCH-LOGICAL-c4259-c7455d36ea5d0b245cf0debe7bf5fe79ff915f20f19f034834cc7ce36ec994103
IEDL.DBID 24P
ISSN 2330-1619
IngestDate Thu Aug 21 17:42:19 EDT 2025
Fri Jul 11 00:31:58 EDT 2025
Fri Jul 25 05:45:28 EDT 2025
Thu Jul 03 08:08:17 EDT 2025
Thu Apr 24 22:56:09 EDT 2025
Wed Jan 22 16:23:12 EST 2025
IsDoiOpenAccess true
IsOpenAccess true
IsPeerReviewed true
IsScholarly true
Issue 6
Language English
License Attribution
This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
LinkModel DirectLink
MergedId FETCHMERGED-LOGICAL-c4259-c7455d36ea5d0b245cf0debe7bf5fe79ff915f20f19f034834cc7ce36ec994103
Notes ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 14
content type line 23
ORCID 0000-0003-3529-5075
0000-0003-4096-6945
OpenAccessLink https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fmdc3.13509
PMID 35937496
PQID 2697210893
PQPubID 2034610
PageCount 4
ParticipantIDs pubmedcentral_primary_oai_pubmedcentral_nih_gov_9346254
proquest_miscellaneous_2699961086
proquest_journals_2697210893
crossref_primary_10_1002_mdc3_13509
crossref_citationtrail_10_1002_mdc3_13509
wiley_primary_10_1002_mdc3_13509_MDC313509
PublicationCentury 2000
PublicationDate August 2022
PublicationDateYYYYMMDD 2022-08-01
PublicationDate_xml – month: 08
  year: 2022
  text: August 2022
PublicationDecade 2020
PublicationPlace Hoboken, USA
PublicationPlace_xml – name: Hoboken, USA
– name: Milwaukee
PublicationTitle Movement disorders clinical practice (Hoboken, N.J.)
PublicationYear 2022
Publisher John Wiley & Sons, Inc
Wiley Subscription Services, Inc
Publisher_xml – name: John Wiley & Sons, Inc
– name: Wiley Subscription Services, Inc
References e_1_2_1_5_2_1
e_1_2_1_5_10_1
e_1_2_1_5_11_1
e_1_2_1_5_9_1
e_1_2_1_5_8_1
e_1_2_1_5_7_1
e_1_2_1_5_6_1
e_1_2_1_5_5_1
e_1_2_1_5_4_1
e_1_2_1_5_3_1
References_xml – ident: e_1_2_1_5_5_1
  doi: 10.1093/brain/awy046
– ident: e_1_2_1_5_11_1
  doi: 10.1016/j.ejpn.2021.06.005
– ident: e_1_2_1_5_2_1
  doi: 10.1038/ng.150
– ident: e_1_2_1_5_8_1
  doi: 10.1038/ejhg.2010.183
– ident: e_1_2_1_5_9_1
  doi: 10.1016/j.ejpn.2016.04.005
– ident: e_1_2_1_5_6_1
  doi: 10.1093/brain/awab327
– ident: e_1_2_1_5_7_1
  doi: 10.1038/nature19057
– ident: e_1_2_1_5_3_1
  doi: 10.1212/WNL.0000000000002457
– ident: e_1_2_1_5_10_1
  doi: 10.1002/ajmg.b.32816
– ident: e_1_2_1_5_4_1
  doi: 10.1212/WNL.0000000000011543
SSID ssj0001256021
Score 2.2251933
SourceID pubmedcentral
proquest
crossref
wiley
SourceType Open Access Repository
Aggregation Database
Enrichment Source
Index Database
Publisher
StartPage 837
SubjectTerms Letters: Genotype and Phenotype
movement disorder
stop‐loss
STXBP1
tremor
Title STXBP1 Stop‐Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy
URI https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fmdc3.13509
https://www.proquest.com/docview/2697210893
https://www.proquest.com/docview/2699961086
https://pubmed.ncbi.nlm.nih.gov/PMC9346254
Volume 9
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwlV3dS8MwEA-iL76IouL8IqIvCmVpPtYFfPGTIU4HOthbadIEBW2H60Df_BP8G_1LvKRr50QE31pyadO7XHN3yf0OoQOYJQysahuoNFQB1xqutJRBC-4Z46pNtHMUuzetTp9fDcRgDh1XuTAlPkQdcHOa4f_XTsETNWpOQUOfU81c1QaXvbcAVj1z85vy3rcIC6zmPvGKgtMegGkja3xS2px2n12Rpmbmz0OS341Xv_pcLqOlidmIT0o5r6A5k60idXc_OO2F-K7Ih5_vH9fwdNwdl3vruOK7SbGLtWKn-E_mFXtEY3ybjUyBu7lHCy9whcHpSfNxgS-GMIrh6G0N9S8v7s86waRmQqBB-2SgIy5EylomESlRlAttSQqCipQV1kTSWhkKS4kNpSXMRRK1jrSBDiAhHhK2juazPDMbCFMiqCZCJ5KkXIIfqEJmbMLbKmwTE_IGOqz4FusJoLira_EUl1DINHY8jj2PG2i_ph2WMBq_Um1X7I8nqjSKacsBDBGwqxpor24GJXA7G0lm8rGnAb_NFY1qoGhGbPXbHIz2bEv2-ODhtCXj4ATC5xx5Af8xvrh7fsb81eZ_iLfQInVJE_7Y4DaaL17GZgdMmULt-hm762NMXyyo8aY
linkProvider Wiley-Blackwell
linkToHtml http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwlV1fb9MwELfQ9gAvaBMgCmUYwQtI0Rz_SerHbawq0IxJ66S-RbVjC6SSVGsqwRsfYZ9xn2R3Tpq2CCHxlsjnxLnzxXdn3-8IeQezRIBV7SNTxCaS1sKV1TpK4F4IaQbMoqOYXSSja_l5qqbt2RzMhWnwIbqAG2pG-F-jgmNA-niDGvqjsALLNmD63r5MwHdBYGd5uRVigeU8ZF5x8NojsG10B1DKjzfdd5ekjZ355ynJbes1LD_DA_K4tRvpSSPoQ_LAlU-IuZpMTy9jelVXi7vft2N4Os1WzeY6XTPeFRSDrRQ1f-5-0gBpTL-WS1fTrApw4TVdg3AG0mpV0_MFjGKx_PWUXA_PJ2ejqC2aEFlQPx3ZVCpViMTNVMEMl8p6VoCkUuOVd6n2XsfKc-Zj7ZnAUKK1qXXQAUQkYyaekb2yKt1zQjlT3DJlZ5oVUoMjaGLh_EwOTDxgLpY98n7Nt9y2iOJY2GKeN1jIPEce54HHPfK2o100OBp_peqv2Z-3urTMeYIIQwwMqx550zWDFuDWxqx01SrQgOOGVaN6JN0RW_c2xNHebSm_fwt42lrA7FHwOR-CgP8xvjz7eCbC1Yv_IX5NHo4m2Tgff7r48pI84phBEc4Q9slefbNyr8Cuqc1RmL33cmzz_A
linkToPdf http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwlV1fa9swEBehg9GXsbGNpUs3jfVlAxNZf-II-tK1CdmaZIEkkDcTyRIdZLZpHGjf-hH2GftJdpJjJxljsDcbnWz5_lh3J-l3CJ2BljDwqm2gklAFXGu40lIGHbhnjKsu0S5QHI07gzn_thCLBjqvzsKU-BB1ws1Zhv9fOwPPE9vegYb-TDRzVRvc6b0nHBTP6Tflk70MC8zm_uAVhaA9ANdG1viktL3rfjgj7dzMPzdJ7juvfvbpP0fPtm4jvijl_AI1TPoSqels8WUS4mmR5Y8Pv4bwdDzalGvruOK7SbDLtWJn-Ctzhz2iMf6erk2BR5lHCy9whcHpSbNNgXs5jCJf379C835vdjkItjUTAg3WJwMdcSES1jFLkRBFudCWJCCoSFlhTSStlaGwlNhQWsJcJlHrSBvoABLiIWGv0VGapeYNwpQIqonQS0kSLiEOVCEzdsm7KuwSE_Im-lTxLdZbQHFX12IVl1DINHY8jj2Pm-hjTZuXMBp_pWpV7I-3prSOaccBDBHwq5roQ90MRuBWNpapyTaeBuI2VzSqiaIDsdVvczDahy3pjxsPpy0ZhyAQPuezF_A_xhePri6Zvzr5H-L36Onkqh8Pv46v36Jj6s5P-B2ELXRU3G7MKXg1hXrnlfc3LJvzNw
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=STXBP1+Stop%E2%80%90Loss+Mutation+Associated+with+Complex+Early+Onset+Movement+Disorder+without+Epilepsy&rft.jtitle=Movement+disorders+clinical+practice+%28Hoboken%2C+N.J.%29&rft.au=Spaull%2C+Robert&rft.au=Steel%2C+Dora&rft.au=Barwick%2C+Katy&rft.au=Prabhakar%2C+Prab&rft.date=2022-08-01&rft.pub=John+Wiley+%26+Sons%2C+Inc&rft.eissn=2330-1619&rft.volume=9&rft.issue=6&rft.spage=837&rft.epage=840&rft_id=info:doi/10.1002%2Fmdc3.13509&rft_id=info%3Apmid%2F35937496&rft.externalDocID=PMC9346254
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=2330-1619&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=2330-1619&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=2330-1619&client=summon