No association between SCN9A and monogenic human epilepsy disorders

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

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

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 and other monogenic seizure phenotypes indistinguishable from those associated with SCN1A, leading to inclusion of SCN9A on epilepsy gene testing panels. Here we present serendipitous findings of genetic studies that identify the SCN9A c.1921A>T p.(Asn641Tyr) variant at high frequency in the Amish community in the absence of such seizure phenotypes. Together with findings in UK Biobank these data refute an association of SCN9A with epilepsy, which has important clinical diagnostic implications.

Original languageEnglish (US)
Article numbere1009161
JournalPLoS genetics
Volume16
Issue number11
DOIs
StatePublished - Nov 20 2020

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Molecular Biology
  • Genetics
  • Genetics(clinical)
  • Cancer Research

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