[PDF][PDF] Distinct Functional Alterations and Therapeutic Options of Two Pathological De Novo Variants of the T292 Residue of GABRA1 Identified in Children with …
W Chen, Y Ge, J Lu, J Melo, YW So, R Juneja… - Int. J. Mol …, 2022 - open.library.ubc.ca
Mutations of GABAAR have reportedly led to epileptic encephalopathy and
neurodevelopmental disorders. We have identified a novel de novo T292S missense variant …
neurodevelopmental disorders. We have identified a novel de novo T292S missense variant …
Distinct Functional Alterations and Therapeutic Options of Two Pathological De Novo Variants of the T292 Residue of GABRA1 Identified in Children with Epileptic …
W Chen, Y Ge, J Lu, J Melo, YW So… - … Journal of Molecular …, 2022 - europepmc.org
Abstract Mutations of GABA AR have reportedly led to epileptic encephalopathy and
neurodevelopmental disorders. We have identified a novel de novo T292S missense variant …
neurodevelopmental disorders. We have identified a novel de novo T292S missense variant …