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.

Epilepsy and electroencephalographic abnormalities in C9orf72 repeat expansion

Anzellotti F;Di Giacomo R;Onofrj M
2017-01-01

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.
File in questo prodotto:
File Dimensione Formato  
Capasso_2017.pdf

Solo gestori archivio

Descrizione: Articolo principale
Tipologia: PDF editoriale
Dimensione 835.37 kB
Formato Adobe PDF
835.37 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11564/703155
Citazioni
  • ???jsp.display-item.citation.pmc??? 3
  • Scopus 9
  • ???jsp.display-item.citation.isi??? 8
social impact