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Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

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....

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507344/ https://www.ncbi.nlm.nih.gov/pubmed/32588540 http://dx.doi.org/10.1002/mgg3.1388

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