Clinical and genetic characteristics of patients with Doose syndrome.
Nodoka HinokumaMitsuko NakashimaHideyuki AsaiKazuyuki NakamuraShinjiro AkaboshiMasataka FukuokaMasami TogawaShingo OanaKoyo OhnoMariko KasaiChikako OgawaKazuna YamamotoKiyohito OkumiyaPin Fee ChongRyutaro KiraShumpei UchinoTetsuhiro FukuyamaTomoe ShinagawaYohane MiyataYuichi AbeAkira HojoKozue KobayashiYoshihiro MaegakiNobutsune IshikawaHiroko IkedaMasano AmamotoTakeshi MizuguchiKazuhiro IwamaToshiyuki ItaiSatoko MiyatakeHirotomo SaitsuNaomichi MatsumotoMitsuhiro KatoPublished in: Epilepsia open (2020)
MAE patients had genetic heterogeneity, and HNRNPU and STS emerged as possible candidate causative genes. Febrile seizures prior to epileptic seizures and myoclonic-atonic seizure at onset indicate a genetic predisposition to MAE. Comorbid conditions were not related to genetic predisposition to MAE.