title: Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.
abstract: We describe two couples of sibs from a southern Italian family affected by epilepsy, myoclonus, mental retardation and slight ataxia. Onset was between 4 and 12 years and the course slowly progressive. The clinical picture suggested the diagnosis of Unverricht-Lundborg disease. Molecular study excluded linkage to EPM1. Other possible causes of progressive myoclonus epilepsy were also excluded.
authors.affiliation: Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, Via Pansini 5, 80131, Napoli, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Coppola
authors.forename: Chiara
authors.initials: C
authors.lastname: Criscuolo
authors.forename: Giuseppe
authors.initials: G
authors.lastname: De Michele
authors.forename: Salvatore
authors.initials: S
authors.lastname: Striano
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Barbieri
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Anna
authors.initials: A
authors.lastname: Perretti
authors.forename: Lucio
authors.initials: L
authors.lastname: Santoro
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Brescia Morra
authors.forename: Francesco
authors.initials: F
authors.lastname: Saccà
authors.forename: Valentina
authors.initials: V
authors.lastname: Scarano
authors.forename: Adamo P
authors.initials: AP
authors.lastname: D'Adamo
authors.forename: Sandro
authors.initials: S
authors.lastname: Banfi
authors.forename: Paolo
authors.initials: P
authors.lastname: Gasparini
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Anna E
authors.initials: AE
authors.lastname: Lehesjoki
authors.forename: Alessandro
authors.initials: A
authors.lastname: Filla
mesh_terms: D000328:Adult; D017668:Age of Onset; D001259:Ataxia / Q000150:complications* / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D020191:Myoclonic Epilepsies, Progressive / Q000150:complications* / Q000235:genetics / Q000473:pathology; D017354:Point Mutation
chemical_list: D004272:DNA, Mitochondrial
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