Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.

doi:10.1093/brain/awaa178

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Article

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.

Brain : a journal of neurology - 1 Aug 2020

Neuray Caroline, Maroofian Reza, Scala Marcello, Sultan Tipu, Pai Gurpur S, Mojarrad Majid, Khashab Heba El, deHoll Leigh, Yue Wyatt, Alsaif Hessa S, Zanetti Maria N, Bello Oscar, Person Richard, Eslahi Atieh, Khazaei Zaynab, Feizabadi Masoumeh H, Efthymiou Stephanie, El-Bassyouni Hala T, Soliman Doaa R, Tekes Selahattin, Ozer Leyla, Baltaci Volkan, Khan Suliman, Beetz Christian, Amr Khalda S, Salpietro Vincenzo, Jamshidi Yalda, Alkuraya Fowzan S, Houlden Henry

Abstract excerpt

Gamma-aminobutyric acid (GABA) and glutamate are the most abundant amino acid neurotransmitters in the brain. GABA, an inhibitory neurotransmitter, is synthesized by glutamic acid decarboxylase (GAD). Its predominant isoform GAD67, contributes up to ∼90% of base-level GABA in the CNS, and is encoded by the GAD1 gene. Disruption of GAD1 results in an imbalance of inhibitory and excitatory neurotransmitters, and as...

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PMID: 32705143
DOI: 10.1093/brain/awaa178
PMCID: PMC7447512

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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