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: M1500V

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: M1500V

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: M1500V

PubMed Link: 35002916

Variant Present in the following documents:

• Main text
• fneur-12-743726.pdf

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Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes.

Human Genomics

Domitrz, Izabela I; Kosiorek, Michalina M; Żekanowski, Cezary C; Kamińska, Anna A

Publication Date: 2016-01-08

Variant appearance in text: SCN1A: 4498A>G; M1500V; rs376885324

PubMed Link: 26747084

Variant Present in the following documents:

• Main text
• 40246_2015_Article_57.pdf

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