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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Detalhes bibliográficos
Publicado no:Neurology
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2016
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Article
Acesso em linha: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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