Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

OBJECTIVE: To identify the genetic basis of a family segregating episodic ataxia, infantile seizures, and heterogeneous epilepsies and to study the phenotypic spectrum of KCNA2 mutations. METHODS: A family with 7 affected individuals over 3 generations underwent detailed phenotyping. Whole genome se...

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書誌詳細
出版年:Neurology
主要な著者: Corbett, Mark A., Bellows, Susannah T., Li, Melody, Carroll, Renée, Micallef, Silvana, Carvill, Gemma L., Myers, Candace T., Howell, Katherine B., Maljevic, Snezana, Lerche, Holger, Gazina, Elena V., Mefford, Heather C., Bahlo, Melanie, Berkovic, Samuel F., Petrou, Steven, Scheffer, Ingrid E., Gecz, Jozef
フォーマット: Artigo
言語:Inglês
出版事項: Lippincott Williams & Wilkins 2016
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5109949/
https://ncbi.nlm.nih.gov/pubmed/27733563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000003309
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