Article
Mild Lafora disease: clinical, neurophysiologic, and genetic findings.
Epilepsia - 1 Dec 2014
Ferlazzo Edoardo, Canafoglia Laura, Michelucci Roberto, Gambardella Antonio, Gennaro Elena, Pasini Elena, Riguzzi Patrizia, Plasmati Rosaria, Volpi Lilia, Labate Angelo, Gasparini Sara, Villani Flavio, Casazza Marina, Viri Maurizio, Zara Federico, Minassian Berge A, Turnbull Julie, Serratosa Jose M, Guerrero-López Rosa, Franceschetti Silvana, Aguglia Umberto
Abstract excerpt
We report clinical, neurophysiologic, and genetic features of an Italian series of patients with Lafora disease (LD) to identify distinguishing features of those with a slowly progressive course. Twenty-three patients with LD (17 female; 6 male) were recruited. Mean age (± SD) at the disease onset was 14.5 ± 3.9 years and mean follow-up duration was 13.2 ± 8.0 years. NHLRC1 mutations were detected in 18 patients;...
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