Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy

A potential link between GABRD encoding the δ subunit of extrasynaptic GABAA receptors and neurodevelopmental disorders has largely been disregarded due to conflicting conclusions from early studies. However, we identified seven heterozygous missense GABRD variants in 10 patients with neurodevelopme...

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Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2022-05, Vol.145 (4), p.1299-1309
Hauptverfasser:	Ahring, Philip K, Liao, Vivian W Y, Gardella, Elena, Johannesen, Katrine M, Krey, Ilona, Selmer, Kaja K, Stadheim, Barbro F, Davis, Hannah, Peinhardt, Charlotte, Koko, Mahmoud, Coorg, Rohini K, Syrbe, Steffen, Bertsche, Astrid, Santiago-Sim, Teresa, Diemer, Tue, Fenger, Christina D, Platzer, Konrad, Eichler, Evan E, Lerche, Holger, Lemke, Johannes R, Chebib, Mary, Møller, Rikke S
Format:	Artikel
Sprache:	eng
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