Associated Papers
Generation of two patient specific GABRD variants and their isogenic controls for modeling epilepsy.
Kamand M et al.
Stem Cell Research, 2024
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.
Jauss RT et al.
Genes, 2022
The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits.
Ahring PK et al.
Epilepsia, 2022
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.
Ahring PK et al.
Brain : a Journal of Neurology, 2022
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