[HTML][HTML] 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, R Juneja… - International Journal of …, 2022 - mdpi.com
Mutations of GABAAR have reportedly led to epileptic encephalopathy and
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… - International …, 2022 - search.ebscohost.com
Mutations of GABA< sub> AR have reportedly led to epileptic encephalopathy and
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, R Juneja, L Liu… - 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 …

[HTML][HTML] 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… - … Journal of Molecular …, 2022 - ncbi.nlm.nih.gov
Abstract Mutations of GABA AR have reportedly led to epileptic encephalopathy and
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… - International …, 2022 - pubmed.ncbi.nlm.nih.gov
Mutations of GABA AR have reportedly led to epileptic encephalopathy and
neurodevelopmental disorders. We have identified a novel de novo T292S missense variant …

[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, L Liu… - Int. J. Mol. Sci, 2022 - academia.edu
Mutations of GABAAR have reportedly led to epileptic encephalopathy and
neurodevelopmental disorders. We have identified a novel de novo T292S missense variant …

[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… - Int. J. Mol …, 2022 - pdfs.semanticscholar.org
Mutations of GABAAR have reportedly led to epileptic encephalopathy and
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, R Juneja, L Liu… - agris.fao.org
Mutations of GABAAR have reportedly led to epileptic encephalopathy and
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, G Yang, J Lu, J Melo, YW So… - International …, 2022 - search.proquest.com
Abstract Mutations of GABA AR have reportedly led to epileptic encephalopathy and
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 …