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Article

Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation.

Neurobiology of disease - 1 Feb 2020

Xie Yunyao, Ng Nathan N, Safrina Olga S, Ramos Carmen M, Ess Kevin C, Schwartz Philip H, Smith Martin A, O'Dowd Diane K

Abstract excerpt

Over 1250 mutations in SCN1A, the Nav1.1 voltage-gated sodium channel gene, are associated with seizure disorders including GEFS+. To evaluate how a specific mutation, independent of genetic background, causes seizure activity we generated two pairs of isogenic human iPSC lines by CRISPR/Cas9 gene editing. One pair is a control line from an unaffected sibling, and the mutated control carrying the GEFS+ K1270T...

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Source

Identifiers

PMID: 31786370
DOI: 10.1016/j.nbd.2019.104627

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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