Key result
Phenytoin resolves refractory tonic seizures in a child with a novel SCN8A mutation.
Why the study?
Mutations in SCN8A are recently described in patients with severe epilepsy and evolving phenotypes including refractory seizures and autistic features, necessitating genetic testing for diagnosis and therapeutic implications.
Population
1 four-year-old girl with speech delay, refractory seizures, and autistic features
Comparison
Phenytoin therapy and modified Atkins diet after genetic diagnosis
Design
Case report
Authors
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May prompt genetic evaluation in refractory pediatric epilepsy with speech delay; hypothesis-generating and requires validation in larger cohorts.
Case Report (n=1)
A novel SCN8A mutation was identified in a child with refractory epilepsy and autistic features, highlighting the utility of next-generation sequencing in severe unclassified epilepsy and its potential therapeutic implications.
Puneet Jain (2017) conducted a case report in Refractory seizures and autistic features (n=1). Phenytoin was evaluated on Seizure control. A novel pathogenic heterozygous missense mutation in the SCN8A gene was identified in a 4-year-old girl with refractory seizures, whose tonic seizures resolved upon treatment with phenytoin.
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