Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.M1619V
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SCN1A

NM_001165963.4:p.M1619V

Associated Papers

Shared genetics in epilepsy and migraine: A scoping review.

Sahu P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.

Akawi N et al.

Frontiers in Molecular Biosciences, 2024

39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12

Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.

Al Anazi AH et al.

Human Genomics, 2022

36539902 (PubMed )
Supplement: 40246_2022_444_MOESM1_ESM.xlsx › Epilepsy_Pathogenic_variants

SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Ding J et al.

Frontiers in Neurology, 2021

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

Case Series of Early SCN1A-Related Developmental and Epileptic Encephalopathies.

Gowda VK et al.

Journal of Pediatric Neurosciences, 0

Phenotypic features of epilepsy due to sodium channelopathies - A single center experience from India.

Viswanathan LG et al.

Journal of Neurosciences in Rural Practice, 0

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