title: Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation.
authors.affiliation: Istanbul University, Istanbul Faculty of Medicine, Department of Neurology, Istanbul, Turkey. Electronic address: emeloguz@yahoo.com.
authors.forename: Emel
authors.initials: E
authors.lastname: Oguz Akarsu
authors.affiliation: Istanbul University, Istanbul Faculty of Medicine, Department of Neurology, Istanbul, Turkey.
authors.forename: Pınar
authors.initials: P
authors.lastname: Tekturk
authors.affiliation: Istanbul University, Istanbul Faculty of Medicine, Department of Neurology, Istanbul, Turkey.
authors.forename: Zuhal
authors.initials: Z
authors.lastname: Yapici
authors.affiliation: Istanbul University, Istanbul Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey.
authors.forename: Fatih
authors.initials: F
authors.lastname: Tepgec
authors.affiliation: Istanbul University, Istanbul Faculty of Medicine, Department of Medical Genetics, Istanbul, Turkey.
authors.forename: Z Oya
authors.initials: ZO
authors.lastname: Uyguner
authors.affiliation: Istanbul University, Istanbul Faculty of Medicine, Department of Neurology, Istanbul, Turkey.
authors.forename: Betul
authors.initials: B
authors.lastname: Baykan
mesh_terms: D055573:Acid Ceramidase / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging / Q000503:physiopathology; D002648:Child; D005143:Eyelids / Q000503:physiopathology; D005260:Female; D006801:Humans; D009134:Muscular Atrophy, Spinal / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D009154:Mutation; D020191:Myoclonic Epilepsies, Progressive / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype; D013226:Status Epilepticus / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D014741:Video Recording
chemical_list: C526693:ASAH1 protein, human; D055573:Acid Ceramidase