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

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; Moller, Rikke S.

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

Author:

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; Moller, Rikke S.

Tübinger Autor(en):

Koko, Mahmoud
Lerche, Holger

Published in:

Brain (2022), Bd. 145, H. 4, S. 1299-1309

Verlagsangabe:

Oxford Univ Press

Language:

English

Full text:

http://dx.doi.org/10.1093/brain/awab391

ISSN:

0006-8950