Publications:

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Copy Number Variation and Structural Genomic Findings in 116 Cases of Sudden Unexplained Death between 1 and 28 Months of Age.

Advanced Genetics (Hoboken, N.J.)

Brownstein, Catherine A CA; Douard, Elise E; Haynes, Robin L RL; Koh, Hyun Yong HY; Haghighi, Alireza A; Keywan, Christine C; Martin, Bree B; Alexandrescu, Sanda S; Haas, Elisabeth A EA; Vargas, Sara O SO; Wojcik, Monica H MH; Jacquemont, Sébastien S; Poduri, Annapurna H AH; Goldstein, Richard D RD; Holm, Ingrid A IA

Publication Date: 2023-03

Variant appearance in text: SCN1A: 3886T>A

PubMed Link: 36910592

Variant Present in the following documents:

• GGN2-4-2200012.pdf

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: SCN1A: L1296M; rs375896308

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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: 3886T>A

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: L1296M

PubMed Link: 34722422

Variant Present in the following documents:

• Main text
• fped-09-742225.pdf

View BVdb publication page

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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: L1296M

PubMed Link: 32449611

Variant Present in the following documents:

• Main text
• MGG3-8-e1309.pdf
• MGG3-8-e1309-s002.xlsx, sheet 1

View BVdb publication page

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SCN1A variants associated with sudden infant death syndrome.

Epilepsia

Brownstein, Catherine A CA; Goldstein, Richard D RD; Thompson, Christopher H CH; Haynes, Robin L RL; Giles, Emma E; Sheidley, Beth B; Bainbridge, Matthew M; Haas, Elisabeth A EA; Mena, Othon J OJ; Lucas, Jonathan J; Schaber, Bethann B; Holm, Ingrid A IA; George, Alfred L AL; Kinney, Hannah C HC; Poduri, Annapurna H AH

Publication Date: 2018-04

Variant appearance in text: SCN1A: 3886T>A; L1296M

PubMed Link: 29601086

Variant Present in the following documents:

• Main text

View BVdb publication page

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