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Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Archive ouverte | May, Patrick | CCSD

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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Archive ouverte | Siekierska, Aleksandra | CCSD

International audience. Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs have emerged as a cause of rece...

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

Archive ouverte | Wolff, Markus | CCSD

International audience. Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotype...

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