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Article

Phenotype of GABA-transaminase deficiency.

Neurology - 16 May 2017

Koenig Mary Kay, Hodgeman Ryan, Riviello James J, Chung Wendy, Bain Jennifer, Chiriboga Claudia A, Ichikawa Kazushi, Osaka Hitoshi, Tsuji Megumi, Gibson K Michael, Bonnen Penelope E, Pearl Phillip L

Abstract excerpt

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,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28411234
DOI: 10.1212/WNL.0000000000003936
PMCID: PMC5444310

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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