Article
Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.
Molecular genetics & genomic medicine - 1 Sept 2020
Markus Fenja, Angelini Chloé, Trimouille Aurelien, Rudolf Gabrielle, Lesca Gaetan, Goizet Cyril, Lasseaux Eulalie, Arveiler Benoit, van Slegtenhorst Marjon, Brooks Alice S, Abou Jamra Rami, Korenke Georg-Christoph, Neidhardt John, Owczarek-Lipska Marta
Abstract excerpt
BACKGROUND: Epilepsy belongs to a group of chronic and highly heterogeneous brain disorders. Many types of epilepsy and epileptic syndromes are caused by genetic factors. The neural amino acid y-aminobutyric acid (GABA) is a major inhibitory neurotransmitter in the mammalian central nervous system. It regulates activity of channel pores by binding to transmembrane GABA-receptors (GABRs). The GABRs are...
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