Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment.
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.
Ferlazzo
Edoardo
E
IRCCS Centro Neurolesi Bonino-Pulejo, Messina, Italy. edoferl@hotmail.it
Italiano
Domenico
D
An
Isabelle
I
Calarese
Tiziana
T
Laguitton
Virginie
V
Bramanti
Placido
P
Di Bella
Paolo
P
Genton
Pierre
P
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