Associated Papers
Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.
Sanri A et al.
Brain & Development, 2026
Uncovering common genetic risk factors in migraine and epilepsy through whole exome sequencing.
Sahu P et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
Biallelic SCN1A variants with divergent epilepsy phenotypes.
Pentz R et al.
Seizure, 2025
Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing.
Gamirova R et al.
Journal of Human Genetics, 2024
Focal epilepsy due to de novo SCN1A mutation.
Laur D et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2021
Integrated Proteogenomic Characterization of Clear Cell Renal Cell Carcinoma.
Clark DJ et al.
Cell, 2019
31675502 (PubMed )
Supplement: NIHMS1597713-supplement-Table_S7.xlsx › NeoFlow
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1
The SCN1A gene variants and epileptic encephalopathies.
Parihar R et al.
Journal of Human Genetics, 2013
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.
Catarino CB et al.
Brain : a Journal of Neurology, 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
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity.
Kanai K et al.
Journal of Medical Genetics, 2009
GEFS+ where focal seizures evolve from generalized spike wave: video-EEG study of two children.
Deng YH et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2007
The spectrum of SCN1A-related infantile epileptic encephalopathies.
Harkin LA et al.
Brain : a Journal of Neurology, 2007
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