Characterization of the GABRB2-Associated Neurodevelopmental Disorders.

Christelle M El AchkarMerle HarrerLacey SmithMcKenna KellySumaiya IqbalSnezana MaljevicCristina E NituradLisenka E L M VissersAnnapurna H PoduriEdward YangDennis LalHolger LercheRikke Steensjerre Moller Heather E Olsonnull null

Published in: Annals of neurology (2020)

GABRB2-related epilepsy ranges broadly in severity from genetic generalized epilepsy to developmental and epileptic encephalopathies. Developmental disability and movement disorder are key features. The phenotypic spectrum is comparable to other GABAA receptor-encoding genes. Phenotypic severity varies by protein domain. Experimental evidence supports loss of GABAergic inhibition as the mechanism underlying GABRB2-associated neurodevelopmental disorders. ANN NEUROL 2021;89:573-586.

Keyphrases

genome wide
multiple sclerosis
binding protein
congenital heart disease
amino acid
gene expression
drug induced