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Article

No association between SCN9A and monogenic human epilepsy disorders.

PLoS genetics - 1 Nov 2020

Fasham James, Leslie Joseph S, Harrison Jamie W, Deline James, Williams Katie B, Kuhl Ashley, Scott Schwoerer Jessica, Cross Harold E, Crosby Andrew H, Baple Emma L

Abstract excerpt

Many studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family counselling. Previously, SCN9A gene variants, in particular a c.1921A>T p.(Asn641Tyr) substitution, have been identified as a likely autosomal dominant cause of febrile seizures/febrile seizures plus...

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Identifiers

PMID: 33216760
DOI: 10.1371/journal.pgen.1009161
PMCID: PMC7717534

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