Publications:

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: N1788K

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

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Cannabidiol Mellows Out Resurgent Sodium Current.

Epilepsy Currents

Thompson, Christopher H CH; Kearney, Jennifer A JA

Publication Date: 2016

Variant appearance in text: SCN1A: N1788K

PubMed Link: 27857623

Variant Present in the following documents:

• Main text

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Aberrant epilepsy-associated mutant Nav1.6 sodium channel activity can be targeted with cannabidiol.

Brain : A Journal Of Neurology

Patel, Reesha R RR; Barbosa, Cindy C; Brustovetsky, Tatiana T; Brustovetsky, Nickolay N; Cummins, Theodore R TR

Publication Date: 2016-08

Variant appearance in text: SCN1A: N1788K

PubMed Link: 27267376

Variant Present in the following documents:

• Main text

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De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

American Journal Of Human Genetics

Veeramah, Krishna R KR; O'Brien, Janelle E JE; Meisler, Miriam H MH; Cheng, Xiaoyang X; Dib-Hajj, Sulayman D SD; Waxman, Stephen G SG; Talwar, Dinesh D; Girirajan, Santhosh S; Eichler, Evan E EE; Restifo, Linda L LL; Erickson, Robert P RP; Hammer, Michael F MF

Publication Date: 2012-03-09

Variant appearance in text: SCN1A: Asn1788Lys

PubMed Link: 22365152

Variant Present in the following documents:

• Main text

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