Article
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Neurology - 8 Nov 2016
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
Abstract excerpt
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 sequencing was performed on a mildly affected grandmother and her grandson with epileptic encephalopathy (EE)....
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