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dc.contributor.authorChen, Haijun
dc.contributor.authorvon Hehn, Christian A.
dc.contributor.authorKaczmarek, Leonard K.
dc.contributor.authorMent, Laura R.
dc.contributor.authorPober, Barbara R.
dc.contributor.authorHisama, Fuki Marie
dc.date.accessioned2010-12-22T21:46:42Z
dc.date.issued2007
dc.identifier.citationChen, Haijun, Christian von Hehn, Leonard K. Kaczmarek, Laura R. Ment, Barbara R. Pober, and Fuki M. Hisama. 2007. Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. Neurogenetics 8(2): 131-135.en_US
dc.identifier.issn1364-6745en_US
dc.identifier.issn1364-6753en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:4633872
dc.description.abstractMyokymia is characterized by spontaneous, involuntary muscle fiber group contraction visible as vermiform movement of the overlying skin. Myokymia with episodic ataxia is a rare, autosomal dominant trait caused by mutations in KCNA1, encoding a voltage-gated potassium channel. In the present study, we report a family with four members affected with myokymia. Additional clinical features included motor delay initially diagnosed as cerebral palsy, worsening with febrile illness, persistent extensor plantar reflex, and absence of epilepsy or episodic ataxia. Mutation analysis revealed a novel c.676C>A substitution in the potassium channel gene KCNA1, resulting in a T226K nonconservative missense mutation in the Kv1.1 subunit in all affected individuals. Electrophysiological studies of the mutant channel expressed in Xenopus oocytes indicated a loss of function. Co-expression of WT and mutant cRNAs significantly reduced whole-oocyte current compared to expression of WT Kv1.1 alone.en_US
dc.language.isoen_USen_US
dc.publisherSpringer-Verlagen_US
dc.relation.isversionofdoi:10.1007/s10048-006-0071-zen_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC1820748/pdf/en_US
dash.licenseLAA
dc.subjectmyokymiaen_US
dc.subjectpotassium channelen_US
dc.subjectmutationen_US
dc.titleFunctional Analysis of a Novel Potassium Channel (KCNA1) Mutation in Hereditary Mokymiaen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalNeurogeneticsen_US
dash.depositing.authorPober, Barbara R.
dc.date.available2010-12-22T21:46:42Z
dash.affiliation.otherHMS^Pediatrics-Massachusetts General Hospitalen_US
dash.affiliation.otherHMS^Pediatrics-Children's Hospitalen_US
dc.identifier.doi10.1007/s10048-006-0071-z*
dash.contributor.affiliatedHisama, Fuki Marie
dash.contributor.affiliatedvon Hehn, Christian A.
dash.contributor.affiliatedPober, Barbara


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