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Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy.
Macha A, Liebsch F, Fricke S, Hetsch F, Neuser F, Johannes L, Kress V, Djémié T, Santamaria-Araujo JA, Vilain C, Aeby A, Van Bogaert P, Dejanovic B, Weckhuysen S, Meier JC, Schwarz G. Macha A, et al. Among authors: kress v. Hum Mol Genet. 2022 Mar 21;31(6):901-913. doi: 10.1093/hmg/ddab298. Hum Mol Genet. 2022. PMID: 34617111
21 results