Associated Papers
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
SCN1A gain of function effects in Dravet syndrome: Insights into clinical phenotypes and therapeutic implications.
Kobayashi Takahashi Y et al.
Epilepsia Open, 2025
SCN1A pathogenic variants do not have a distinctive blood-derived DNA methylation signature.
LaFlamme CW et al.
Epilepsia, 2025
Clinical and Functional Features of Epilepsy-Associated In-Frame Deletion Variants in SCN1A.
Wang JY et al.
Frontiers in Molecular Neuroscience, 2022
SCN1A-Related Epilepsy: Novel Mutations and Rare Phenotypes.
Ma R et al.
Frontiers in Molecular Neuroscience, 2022
The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy.
Ko YJ et al.
Journal of Epilepsy Research, 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.
de Lange IM et al.
Journal of Medical Genetics, 2019
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome.
Gonsales MC et al.
Frontiers in Neurology, 2019
The SCN1A gene variants and epileptic encephalopathies.
Parihar R et al.
Journal of Human Genetics, 2013
Prevalence of SCN1A mutations in children with suspected Dravet syndrome and intractable childhood epilepsy.
Wang JW et al.
Epilepsy Research, 2012
Acute encephalopathy with a novel point mutation in the SCN2A gene.
Kobayashi K et al.
Epilepsy Research, 2012
Mutations of the SCN1A gene in acute encephalopathy.
Saitoh M et al.
Epilepsia, 2012
Neuroimaging and neuropathology of Dravet syndrome.
Guerrini R et al.
Epilepsia, 2011
Dravet syndrome: insights from in vitro experimental models.
Mantegazza M
Epilepsia, 2011
De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.
Heron SE et al.
Journal of Medical Genetics, 2010
The SCN1A variant database: a novel research and diagnostic tool.
Claes LR et al.
Human Mutation, 2009
Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy.
Sakakibara T et al.
Epilepsia, 2009
Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.
Kearney JA et al.
Pediatric Neurology, 2006
Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.
Fujiwara T et al.
Brain : a Journal of Neurology, 2003