Article
Large-scale structural alteration of brain in epileptic children with SCN1A mutation.
NeuroImage. Clinical - 1 Jan 2017
Lee Yun-Jeong, Yum Mi-Sun, Kim Min-Jee, Shim Woo-Hyun, Yoon Hee Mang, Yoo Il Han, Lee Jiwon, Lim Byung Chan, Kim Ki Joong, Ko Tae-Sung
Abstract excerpt
OBJECTIVE: Mutations in SCN1A gene encoding the alpha 1 subunit of the voltage gated sodium channel are associated with several epilepsy syndromes including genetic epilepsy with febrile seizures plus (GEFS +) and severe myoclonic epilepsy of infancy (SMEI). However, in most patients with SCN1A mutation, brain imaging has reported normal or non-specific findings including cerebral or cerebellar atrophy. The aim...
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