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Article

Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam: A case report.

Medicine - 1 Dec 2017

Zhang Yi, Lian Yajun, Xie Nanchang

Abstract excerpt

RATIONALE: Early onset epileptic encephalopathy (EOEE) is one of the most serious early onset epilepsies. The etiopathology of this condition remains unclear, and recent evidence indicated that gamma-aminobutyric acid (GABA) A receptor, subunit beta 3 (GABRB3) gene mutations might be associated with EOEE. Furthermore, the therapeutic regimen for EOEE has yet to be well elucidated. Herein, we reported the clinical...

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Source

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Identifiers

PMID: 29390378
DOI: 10.1097/MD.0000000000009273
PMCID: PMC5815790

Genes

GABRB3

Variants

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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