Phenotype of GABA-transaminase deficiency.

ABSTRACT:

Objective

We report a case series of 10 patients with γ-aminobutyric acid (GABA)-transaminase deficiency including a novel therapeutic trial and an expanded phenotype.

Methods

Case ascertainment, literature review, comprehensive evaluations, and long-term treatment with flumazenil.

Results

All patients presented with neonatal or early infantile-onset encephalopathy; other features were hypotonia, hypersomnolence, epilepsy, choreoathetosis, and accelerated linear growth. EEGs showed burst-suppression, modified hypsarrhythmia, multifocal spikes, and generalized spike-wave. Five of the 10 patients are currently alive with age at last follow-up between 18 months and 9.5 years. Treatment with continuous flumazenil was implemented in 2 patients. One patient, with a milder p

SUBMITTER: Koenig MK 

PROVIDER: S-EPMC5444310 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature