Publications:

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN1A: F1808L

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

View BVdb publication page

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The Role of the Persistent Sodium Current in Epilepsy.

Epilepsy Currents

Wengert, Eric R ER; Patel, Manoj K MK

Publication Date: 2021

Variant appearance in text: SMEI: F1808L

PubMed Link: 33236643

Variant Present in the following documents:

• Main text
• 10.1177_1535759720973978.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: SCN1A: F1808L

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Double somatic mosaicism in a child with Dravet syndrome.

Neurology. Genetics

Muir, Alison M AM; King, Chontelle C; Schneider, Amy L AL; Buttar, Aman S AS; Scheffer, Ingrid E IE; Sadleir, Lynette G LG; Mefford, Heather C HC

Publication Date: 2019-06

Variant appearance in text: SCN1A: Phe1808Leu

PubMed Link: 31086826

Variant Present in the following documents:

• Main text
• NG2019009977.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: F1808L

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN1A: F1808L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: SCN1A: F1808L

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

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Solution structure of the NaV1.2 C-terminal EF-hand domain.

The Journal Of Biological Chemistry

Miloushev, Vesselin Z VZ; Levine, Joshua A JA; Arbing, Mark A MA; Hunt, John F JF; Pitt, Geoffrey S GS; Palmer, Arthur G AG

Publication Date: 2009-03-06

Variant appearance in text: Nav1.1: F1808L

PubMed Link: 19129176

Variant Present in the following documents:

• Main text

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(What to do) when epilepsy gene mutations stop making sense.

Epilepsy Currents

Cooper, Edward C EC

Publication Date: 2007

Variant appearance in text: SCN1A: F1808L

PubMed Link: 17304347

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.

The Journal Of Physiology

Rhodes, Thomas H TH; Vanoye, Carlos G CG; Ohmori, Iori I; Ogiwara, Ikuo I; Yamakawa, Kazuhiro K; George, Alfred L AL

Publication Date: 2005-12-01

Variant appearance in text: SCN1A: F1808L

PubMed Link: 16210358

Variant Present in the following documents:

• Main text

View BVdb publication page

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