De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay

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Bibliographic Details
Published inMovement disorders Vol. 30; no. 9; pp. 1290 - 1292
Main Authors Zhang, Zhong-Bin, Tian, Mao-Qiang, Gao, Kai, Jiang, Yu-Wu, Wu, Ye
Format Journal Article
LanguageEnglish
Published United States Blackwell Publishing Ltd 01.08.2015
Wiley Subscription Services, Inc
Subjects
Child, Preschool
Chorea - genetics
Developmental Disabilities - genetics
Humans
Large-Conductance Calcium-Activated Potassium Channel alpha Subunits - genetics
Male
Movement disorders
Mutation - genetics
Online AccessGet full text

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Author Tian, Mao-Qiang
Wu, Ye
Jiang, Yu-Wu
Zhang, Zhong-Bin
Gao, Kai
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  surname: Tian
  fullname: Tian, Mao-Qiang
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  surname: Gao
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  organization: Department of Pediatrics, Peking University First Hospital, Beijing, China
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  email: dryewu@263.net
  organization: Department of Pediatrics, Peking University First Hospital, Beijing, China
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Full financial disclosures and author roles may be found in the online version of this article.
These authors contributed equally to this work.
Nothing to report.
Relevant conflicts of interest/financial disclosures
Funding agencies
The study was supported by the National Key Technology R&D program (2012BAI09B00), and the Key Laboratory Program of the Ministry of Education (2012‐RG/ND‐0001).
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Biervert C, Schroeder BC, Kubisch C, et al. A potassium channel mutation in neonatal human epilepsy. Science 1998;279:403-406.
Charlier C, Singh NA, Ryan SG, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 1998;18:53-55.
Jorge BS, Campbell CM, Miller AR, et al. Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility. Proc Natl Acad Sci U S A 2011;108:5443-5448.
Erro R, Sheerin UM, Bhatia KP. Paroxysmal dyskinesias revisited: a review of 500 genetically proven cases and a new classification. Mov Disord 2014;29:1108-1116.
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References_xml – volume: 108
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  article-title: Voltage‐gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility
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SubjectTerms Child, Preschool
Chorea - genetics
Developmental Disabilities - genetics
Humans
Large-Conductance Calcium-Activated Potassium Channel alpha Subunits - genetics
Male
Movement disorders
Mutation - genetics
Title De novo KCNMA1 mutations in children with early-onset paroxysmal dyskinesia and developmental delay
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