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 CASE REPORT
Year : 2017  |  Volume : 65  |  Issue : 4  |  Page : 801--803

Dravet syndrome with SCN1B gene mutation: A rare entity


Department of Pediatric Medicine and Pediatric Neurology, Institute of Child Health, Kolkata, West Bengal, India

Correspondence Address:
Devdeep Mukherjee
Flat 6F, Uttara Cooperative Housing Society, 13, Broad Street, Kolkata - 700019, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/neuroindia.NI_1115_15

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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. We present the case of a 7-month old male child who started having recurrent febrile, and thereafter, afebrile seizures, following administration of a vaccination at 3 months. He developed global developmental delay, and is presently on multiple anticonvulsants. Genetic analysis was suggestive of SCN1B gene mutation associated with DS.






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Online since 20th March '04
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