Publications:

Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death.

Journal Of The American Heart Association

Chahal, C Anwar A CAA; Tester, David J DJ; Fayyaz, Ahmed U AU; Jaliparthy, Keerthi K; Khan, Nadeem A NA; Lu, Dongmei D; Khan, Mariha M; Sahoo, Aradhana A; Rajendran, Aiswarya A; Knight, Jennifer A JA; Simpson, Michael A MA; Behr, Elijah R ER; So, Elson L EL; St Louis, Erik K EK; Reichard, R Ross RR; Edwards, William D WD; Ackerman, Michael J MJ; Somers, Virend K VK

Publication Date: 2021-12-07

Variant appearance in text: SCN1A: Asn359Ser

PubMed Link: 34816733

Variant Present in the following documents:

• Main text
• JAH3-10-e021170.pdf

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Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

Pediatric Neurology

Butler, Kameryn M KM; da Silva, Cristina C; Alexander, John J JJ; Hegde, Madhuri M; Escayg, Andrew A

Publication Date: 2017-12

Variant appearance in text: SCN1A: 1076A>G; Asn359Ser

PubMed Link: 29056246

Variant Present in the following documents:

• Main text

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: SCN1A: N359S

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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