Abstract
A 25-year-old man had started febrile seizures from 6 months of age and developed important neurodevelopmental delay. At four years presented with status epilepticus and sequentially with refractory epilepsy. He presents with motor delay, behavior disorder and absent expressive language. Brain MRI showed periventricular nodular heterotopias (Figures and ). The Next Generation Sequencing (NGS) came with a rare frameshift mutation in heterozygosis for SCN1A gene. The presence of periventricular heterotopias in association with SCN1A mutation is rare¹. In literature, we [...]
Highlights
There is no conflict of interest to declare
The Generation Sequencing (NGS) came with a rare frameshift mutation in heterozygosis for SCN1A gene
Summary
A 25-year-old man had started febrile seizures from 6 months of age and developed important neurodevelopmental delay.
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