title: Epilepsy and electroencephalographic abnormalities in C9orf72 repeat expansion.
abstract: A patient has been recently described with frontotemporal cognitive decline and C9orf72 repeat expansion who presented abnormally slowed background and photoparoxysmal response at electroencephalographic (EEG) recording. Our data, based on five patients with repeat expansions in C9orf72 and EEG recordings suggest that abnormally slowed background and epilepsy represent previously unrecognized features of the C9orf72 phenotype in some patients.
authors.affiliation: a Neurology Clinic , 'S Annunziata' Hospital , Chieti and.
authors.forename: Margherita
authors.initials: M
authors.lastname: Capasso
authors.affiliation: a Neurology Clinic , 'S Annunziata' Hospital , Chieti and.
authors.forename: Francesca
authors.initials: F
authors.lastname: Anzellotti
authors.affiliation: a Neurology Clinic , 'S Annunziata' Hospital , Chieti and.
authors.forename: Roberta
authors.initials: R
authors.lastname: Di Giacomo
authors.affiliation: a Neurology Clinic , 'S Annunziata' Hospital , Chieti and.|b Department of Neuroscience and Imaging , University 'G. d'Annunzio' of Chieti-Pescara , Chieti , Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Onofrj
mesh_terms: D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000150:complications; D004569:Electroencephalography; D004576:Electromyography; D004827:Epilepsy / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D006973:Hypertension / Q000150:complications; D008875:Middle Aged; D011506:Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins