1. Epilepsy and electroencephalographic abnormalities in C9orf72 repeat expansion
- Author
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Margherita Capasso, Francesca Anzellotti, Marco Onofrj, and Roberta Di Giacomo
- Subjects
0301 basic medicine ,Electroencephalography ,03 medical and health sciences ,Epilepsy ,0302 clinical medicine ,C9orf72 ,medicine ,Humans ,Amyotrophic lateral sclerosis ,Cognitive decline ,DNA Repeat Expansion ,medicine.diagnostic_test ,C9orf72 Protein ,Electromyography ,Proteins ,Middle Aged ,medicine.disease ,030104 developmental biology ,Neurology ,Diabetes Mellitus, Type 2 ,Hypertension ,Female ,Neurology (clinical) ,Trinucleotide repeat expansion ,Psychology ,Neuroscience ,030217 neurology & neurosurgery - 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.
- Published
- 2016