Publications:

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

Frontiers In Neurology

Ding, Jiangwei J; Li, Xinxiao X; Tian, Haiyan H; Wang, Lei L; Guo, Baorui B; Wang, Yangyang Y; Li, Wenchao W; Wang, Feng F; Sun, Tao T

Publication Date: 2021

Variant appearance in text: SCN1A: Glu1308Asp

PubMed Link: 35002916

Variant Present in the following documents:

• Main text
• fneur-12-743726.pdf

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Comprehensive Analysis of Genes Associated With Sudden Infant Death Syndrome.

Frontiers In Pediatrics

Mehboob, Riffat R; Kurdi, Maher M; Ahmad, Mursleen M; Gilani, Syed Amir SA; Khalid, Sidra S; Nasief, Hisham H; Mirdad, Abeer A; Malibary, Husam H; Hakamy, Sahar S; Hassan, Amber A; Alaifan, Meshari M; Bamaga, Ahmed A; Shahzad, Syed Adnan SA

Publication Date: 2021

Variant appearance in text: SCN1A: E1308D

PubMed Link: 34722422

Variant Present in the following documents:

• Main text
• fped-09-742225.pdf

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The role of sodium channels in sudden unexpected death in pediatrics.

Molecular Genetics & Genomic Medicine

Rochtus, Anne M AM; Goldstein, Richard D RD; Holm, Ingrid A IA; Brownstein, Catherine A CA; Pérez-Palma, Eduardo E; Haynes, Robin R; Lal, Dennis D; Poduri, Annapurna H AH

Publication Date: 2020-08

Variant appearance in text: SCN1A: E1308D

PubMed Link: 32449611

Variant Present in the following documents:

• Main text
• MGG3-8-e1309.pdf

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ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurology. Genetics

Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF

Publication Date: 2017-08

Variant appearance in text: SCN1A: E1308D

PubMed Link: 28717674

Variant Present in the following documents:

• NG2017005041.pdf

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: Nav1.1: E1308D

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

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