Familial mesial temporal lobe epilepsy: clinical spectrum and genetic evidence for a polygenic architecture.
Rebekah V HarrisKaren L OliverPiero PeruccaPasquale StrianoAngelo LabateAntonella RivaBronwyn E GrintonJoshua ReidJessica HuttonMarian TodaroTerence J O'BrienPatrick KwanLynette G SadleirSaul A MullenEmanuela DazzoDouglas E CromptonIngrid Eileen SchefferMelanie BahloCarlo NobileAntonio GambardellaSamuel Frank BerkovicPublished in: Annals of neurology (2023)
FMTLE is a generally mild drug-responsive syndrome with déjà vu being the commonest symptom. In contrast to dominant monogenic focal epilepsy syndromes, our molecular data support a polygenic basis for FMTLE. Furthermore, the PRS data suggest that sub-genome-wide significant focal epilepsy GWAS SNPs are important risk variants for FMTLE. This article is protected by copyright. All rights reserved.