This study states that The female proband indicated hypotonia from birth, multifocal myoclonus at 2.5 months, at that point central seizures and myoclonic status epilepticus (SE) at 3 months, set off by fever. Hear-able brainstem reaction (ABR) demonstrated two-sided hearing misfortune. Epilepsy was stubborn and the patient had basically no turn of events. Organization of fenfluramine brought about a critical decrease in seizure recurrence and goal of SE scenes that persevered after a 2‐year follow‐up. The patient aggregate is more viable with early puerile formative and epileptic encephalopathy (DEE) than with common Dravet disorder (DS), as recently determined for different patients to have homozygous SCN1B variations. Biochemical and electrophysiological investigations of the SCN1B variation communicated in heterologous cells indicated cell surface articulation of the freak β1 subunit, like wild‐type (WT), however with loss of ordinary β1‐mediated alteration of human Nav1.1‐generated sodium current, recommending that SCN1B‐p.Arg85Cys is a loss‐of‐function (LOF) variation.

Reference link- https://onlinelibrary.wiley.com/doi/10.1002/acn3.50921

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