AI Article Synopsis
- Early infantile epileptic encephalopathy, like Dravet syndrome (DS), leads to severe outcomes with early onset seizures and intellectual challenges.
- A lesser-known variant, the SCN1B gene mutation, is part of DS and highlights the importance of genetic testing for better diagnosis and parental guidance.
- A 7-month-old boy experienced recurrent seizures after vaccination at 3 months, developed developmental delays, and genetic analysis confirmed a mutation linked to DS.
Article Abstract
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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| http://dx.doi.org/10.4103/neuroindia.NI_1115_15 | DOI Listing |
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