Publications:

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: A1669T

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.

Bmc Medical Genetics

Fry, Andrew E AE; Rees, Elliott E; Thompson, Rose R; Mantripragada, Kiran K; Blake, Penny P; Jones, Glyn G; Morgan, Sian S; Jose, Sian S; Mugalaasi, Hood H; Archer, Hayley H; McCann, Emma E; Clarke, Angus A; Taylor, Clare C; Davies, Sally S; Gibbon, Frances F; Te Water Naude, Johann J; Hartley, Louise L; Thomas, Gareth G; White, Catharine C; Natarajan, Jaya J; Thomas, Rhys H RH; Drew, Cheney C; Chung, Seo-Kyung SK; Rees, Mark I MI; Holmans, Peter P; Owen, Michael J MJ; Kirov, George G; Pilz, Daniela T DT; Kerr, Michael P MP

Publication Date: 2016-04-26

Variant appearance in text: SCN1A: 5005G>A

PubMed Link: 27113213

Variant Present in the following documents:

• Main text
• 12881_2016_Article_294.pdf

View BVdb publication page