Associated Papers
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.
LaFlamme CW et al.
Epilepsia, 2025
SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations.
Veltra D et al.
International Journal of Molecular Sciences, 2024
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.
Michorowska S
Pharmaceuticals (basel, Switzerland), 2021
Recent advances in gene therapy for neurodevelopmental disorders with epilepsy.
Turner TJ et al.
Journal of Neurochemistry, 2021
Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies.
Sabitha KR et al.
Neuroscience and Biobehavioral Reviews, 2021
SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.
Ding J et al.
Frontiers in Neurology, 2021
Stem cells: A path towards improved epilepsy therapies.
Lybrand ZR et al.
Neuropharmacology, 2020
The Value of Parental Testing by Next-Generation Sequencing Includes the Detection of Germline Mosaicism.
Brewer CJ et al.
The Journal of Molecular Diagnostics : Jmd, 2020
Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation.
Xie Y et al.
Neurobiology of Disease, 2020
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
Generation of D1-1 TALEN isogenic control cell line from Dravet syndrome patient iPSCs using TALEN-mediated editing of the SCN1A gene.
Tanaka Y et al.
Stem Cell Research, 2018
Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations.
Cho MJ et al.
Journal of Clinical Neurology (seoul, Korea), 2018
Model systems for studying cellular mechanisms of SCN1A-related epilepsy.
Schutte SS et al.
Journal of Neurophysiology, 2016
Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of "de novo" SCN1A Mutations in Children with Dravet Syndrome.
Xu X et al.
Human Mutation, 2015
The SCN1A gene variants and epileptic encephalopathies.
Parihar R et al.
Journal of Human Genetics, 2013
A human Dravet syndrome model from patient induced pluripotent stem cells.
Higurashi N et al.
Molecular Brain, 2013
A novel mutation in the sodium channel α1 subunit gene in a child with Dravet syndrome in Turkey.
Arslan M et al.
Neural Regeneration Research, 2013
Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene.
Guerrini R et al.
Epilepsia, 2010
An inherited nonsense R1645X mutation in neuronal sodium channel alpha1-subunit gene in a Turkish patient with severe myoclonic epilepsy of infancy.
Gökben S et al.
Neuropediatrics, 2009
Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.
Marini C et al.
Epilepsia, 2007
The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies. Mutation in brief #957. Online.
Vanmolkot KR et al.
Human Mutation, 2007
Stem cells on the brain: modeling neurodevelopmental and neurodegenerative diseases using human induced pluripotent stem cells.
Srikanth P et al.
Journal of Neurogenetics, 0