Article
Dravet syndrome with SCN1B gene mutation: A rare entity.
Neurology India - 1 Jan 2000
Mukherjee Devdeep, Mukherjee Swapan, Niyogi Prabal, Mahapatra Manas
Abstract excerpt
Early infantile epileptic encephalopathy has a grave outcome. Dravet syndrome (DS), characterized by early onset, refractory seizures, and intellectual deficit is one of the variants of the condition. SCN1B gene mutation is one of the lesser known variants of DS. Increased awareness of genetic analysis has increased the early diagnosis of DS for an early prognostication as well as genetic counselling of parents....
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