Functional Analysis of a Novel Potassium Channel (KCNA1) Mutation in Hereditary Mokymia

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Functional Analysis of a Novel Potassium Channel (KCNA1) Mutation in Hereditary Mokymia

Show simple item record Chen, Haijun Kaczmarek, Leonard K. Ment, Laura R. von Hehn, Christian A. Pober, Barbara R. Hisama, Fuki Marie 2010-12-22T21:46:42Z 2007
dc.identifier.citation Chen, 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.issn 1364-6745 en_US
dc.identifier.issn 1364-6753 en_US
dc.description.abstract Myokymia 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.iso en_US en_US
dc.publisher Springer-Verlag en_US
dc.relation.isversionof doi:10.1007/s10048-006-0071-z en_US
dc.relation.hasversion en_US
dash.license LAA
dc.subject myokymia en_US
dc.subject potassium channel en_US
dc.subject mutation en_US
dc.title Functional Analysis of a Novel Potassium Channel (KCNA1) Mutation in Hereditary Mokymia en_US
dc.type Journal Article en_US
dc.description.version Version of Record en_US
dc.relation.journal Neurogenetics en_US Pober, Barbara R. 2010-12-22T21:46:42Z
dash.affiliation.other HMS^Pediatrics-Massachusetts General Hospital en_US
dash.affiliation.other HMS^Pediatrics-Children's Hospital en_US

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