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Article

Epileptic encephalopathy de novo<i>GABRB</i>mutations impair γ‐aminobutyric acid type A receptor function

7 Mar 2016

Abstract excerpt

Objective The Epi4K Consortium recently identified 4 de novo mutations in the γ‐aminobutyric acid type A (GABA A ) receptor β3 subunit gene GABRB3 and 1 in the β1 subunit gene GABRB1 in children with one of the epileptic encephalopathies (EEs) Lennox–Gastaut syndrome (LGS) and infantile spasms (IS). Because the etiology of EEs is often unknown, we determined the impact of GABRB mutations on GABA A receptor...

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PMID: 26950270
DOI: 10.1002/ana.24631

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