Publications:

Voltage-Gated Sodium Channel Dysfunctions in Neurological Disorders.

Life (Basel, Switzerland)

Barbieri, Raffaella R; Nizzari, Mario M; Zanardi, Ilaria I; Pusch, Michael M; Gavazzo, Paola P

Publication Date: 2023-05-16

Variant appearance in text: SCN1A: F1774S

PubMed Link: 37240836

Variant Present in the following documents:

• Main text
• life-13-01191.pdf

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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: F1774S

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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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: 5321T>C

PubMed Link: 35002916

Variant Present in the following documents:

• Main text
• fneur-12-743726.pdf

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A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ganesan, Shiva S; Galer, Peter D PD; Helbig, Katherine L KL; McKeown, Sarah E SE; O'Brien, Margaret M; Gonzalez, Alexander K AK; Felmeister, Alex S AS; Khankhanian, Pouya P; Ellis, Colin A CA; Helbig, Ingo I

Publication Date: 2020-12

Variant appearance in text: SCN1A: 5321T>C; Phe1774Ser

PubMed Link: 32773773

Variant Present in the following documents:

• 41436_2020_923_MOESM3_ESM.xls, sheet 1

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