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Article

De novo GABRG2 mutations associated with epileptic encephalopathies.

Brain : a journal of neurology - 1 Jan 2017

Shen Dingding, Hernandez Ciria C, Shen Wangzhen, Hu Ningning, Poduri Annapurna, Shiedley Beth, Rotenberg Alex, Datta Alexandre N, Leiz Steffen, Patzer Steffi, Boor Rainer, Ramsey Kerri, Goldberg Ethan, Helbig Ingo, Ortiz-Gonzalez Xilma R, Lemke Johannes R, Marsh Eric D, Macdonald Robert L

Abstract excerpt

Epileptic encephalopathies are a devastating group of severe childhood onset epilepsies with medication-resistant seizures and poor developmental outcomes. Many epileptic encephalopathies have a genetic aetiology and are often associated with de novo mutations in genes mediating synaptic transmission, including GABAA receptor subunit genes. Recently, we performed next generation sequencing on patients with a...

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Source

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Identifiers

PMID: 27864268
DOI: 10.1093/brain/aww272
PMCID: PMC5226060

Genes

GABRG2

Provenance

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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