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EPILEPTIC ENCEPHALOPATHY DE NOVO GABRB MUTATIONS IMPAIR GABA(A) RECEPTOR FUNCTION
OBJECTIVE: The Epi4K consortium recently identified four de novo mutations in the γ-aminobutyric acid type A (GABA(A)) receptor β3 subunit gene GABRB3 and one in the β1 subunit gene GABRB1 in children with epileptic encephalopathies (EEs) Lennox-Gastaut syndrome (LGS) or infantile spasms (IS). Since...
Tallennettuna:
| Julkaisussa: | Ann Neurol |
|---|---|
| Päätekijät: | , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2016
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5014730/ https://ncbi.nlm.nih.gov/pubmed/26950270 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24631 |
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