Associated Papers
Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathy.
Macha A et al.
Human Molecular Genetics, 2022
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
de Kovel CG et al.
Molecular Genetics & Genomic Medicine, 2016
27652284 (PubMed )
Supplement: MGG3-4-568-s002.xlsx › variant_overview
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