SCN1B-linked early infantile developmental and epileptic encephalopathy.

ABSTRACT:

Objective

Patients with Early Infantile Epileptic Encephalopathy (EIEE) 52 have inherited, homozygous variants in the gene SCN1B, encoding the voltage-gated sodium channel (VGSC) β1 and β1B non-pore-forming subunits.

Methods

Here, we describe the detailed electroclinical features of a biallelic SCN1B patient with a previously unreported variant, p.Arg85Cys.

Results

The female proband showed hypotonia from birth, multifocal myoclonus at 2.5 months, then focal seizures and myoclonic status epilepticus (SE) at 3 months, triggered by fever. Auditory brainstem response (ABR) showed bilateral hearing loss. Epilepsy was refractory and the patient had virtually no development. Administration of fenfluramine resulted in a significant reduction in seizure frequency and resoluti

SUBMITTER: Aeby A 

PROVIDER: S-EPMC6917350 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature