No association between SCN9A and monogenic human epilepsy disorders.

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.

journal_name

PLoS Genet

journal_title

PLoS genetics

authors

Fasham J,Leslie JS,Harrison JW,Deline J,Williams KB,Kuhl A,Scott Schwoerer J,Cross HE,Crosby AH,Baple EL

doi

10.1371/journal.pgen.1009161

subject

Has Abstract

pub_date

2020-11-20 00:00:00

pages

e1009161

issue

11

eissn

1553-7390

issn

1553-7404

pii

PGENETICS-D-20-00960

journal_volume

16

pub_type

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