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• W2606916385 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 phenotype, began treatment at age 21 months and has continued for 20 months with improved alertness and less excessive adventitious movements. The second patient had a more severe phenotype and was 7 years of age at initiation of flumazenil, which was not continued. Conclusions: GABA-transaminase deficiency presents with neonatal or infantile-onset encephalopathy including hypersomnolence and choreoathetosis. A widened phenotypic spectrum is reported as opposed to lethality by 2 years of age. The GABA-A benzodiazepine receptor antagonist flumazenil may represent a therapeutic strategy." @default.
• W2606916385 created "2017-04-28" @default.
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• W2606916385 date "2017-04-14" @default.
• W2606916385 modified "2023-10-11" @default.
• W2606916385 title "Phenotype of GABA-transaminase deficiency" @default.
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• W2606916385 doi "https://doi.org/10.1212/wnl.0000000000003936" @default.
• W2606916385 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5444310" @default.
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