Varaico: Literature-Extracted Genetic Variants

Gene:SCN8A
Variant:p.A1319S
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SCN8A

NM_001330260.2:p.A1319S

Associated Papers

The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

Elkhateeb N et al.

Clinical Genetics, 2024

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.

Koh HY et al.

Jama Network Open, 2023

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table2.xlsx › Supplementary_table_2._

Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.

SoRelle JA et al.

Jama Network Open, 2020

32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf

Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.

Menezes LFS et al.

Frontiers in Pharmacology, 2020

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
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."