Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

ABSTRACT:

Objective

To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder.

Methods

A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation.

Results

We identified 9 children 3 to 12 years of age; 7 were male. Seizure onset was at 6 to 12 weeks with hemiclonic seizures, bilateral tonic-clonic seizures, or spasms. All children had profound developmental impairment and were nonverbal and nonambulatory, and 7 of 9 required a gastrostomy. A hyperkinetic movement disorder occurred in all and was characterized by dystonia and choreoathetosis with prominent oral dyskinesia and onset from 2 to 20 months of age. Eight had a recurrent

SUBMITTER: Sadleir LG 

PROVIDER: S-EPMC5589790 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature