title: Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment.
abstract: We report a family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment, with probable autosomal recessive inheritance. Disease onset was between 6 and 16 years of age. The diagnosis of Unverricht-Lundborg disease and all other known causes of progressive myoclonus epilepsies were excluded by specific laboratory tests and molecular analysis.
authors.affiliation: IRCCS Centro Neurolesi Bonino-Pulejo, Messina, Italy. edoferl@hotmail.it
authors.forename: Edoardo
authors.initials: E
authors.lastname: Ferlazzo
authors.forename: Domenico
authors.initials: D
authors.lastname: Italiano
authors.forename: Isabelle
authors.initials: I
authors.lastname: An
authors.forename: Tiziana
authors.initials: T
authors.lastname: Calarese
authors.forename: Virginie
authors.initials: V
authors.lastname: Laguitton
authors.forename: Placido
authors.initials: P
authors.lastname: Bramanti
authors.forename: Paolo
authors.initials: P
authors.lastname: Di Bella
authors.forename: Pierre
authors.initials: P
authors.lastname: Genton
mesh_terms: D000293:Adolescent; D000328:Adult; D000462:Algeria; D003072:Cognition Disorders / Q000150:complications* / Q000235:genetics*; D004569:Electroencephalography / Q000379:methods; D004576:Electromyography; D005074:Evoked Potentials, Visual; D005192:Family Health; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020191:Myoclonic Epilepsies, Progressive / Q000150:complications* / Q000235:genetics*; D009431:Neural Conduction / Q000502:physiology; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D055815:Young Adult