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Article

Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated <i>SCN1A</i> mutation

2019-01-18

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 S...

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Literature Corpus work
899bbbf1-3377-5b29-abc6-d8de806e06c2
DOI
10.1101/524835
Open publication

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Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated <i>SCN1A</i> mutationDOI 10.1101/524835
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