Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam: A case report.

ABSTRACT:

Rationale

Early onset epileptic encephalopathy (EOEE) is one of the most serious early onset epilepsies. The etiopathology of this condition remains unclear, and recent evidence indicated that gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 (GABRB3) gene mutations might be associated with EOEE. Furthermore, the therapeutic regimen for EOEE has yet to be well elucidated. Herein, we reported the clinical and genetic features of a case with GABRB3-related EOEE.

Patient concerns

A 6-year-old girl developed epileptic seizures 3 days after birth. She presented with multiple seizure types including myoclonic seizures, spasms, and absence seizures. Serial electroencephalographic examinations showed variable abnormalities, and intellectual evaluation revealed significant de

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC5815790 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature