Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment.
Articolo
Data di Pubblicazione:
2009
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.
Tipologia CRIS:
14.a.1 Articolo su rivista
Keywords:
Adolescent, Adult, Algeria, Cognition Disorders, Electroencephalography, Electromyography, Evoked Potentials; Visual, Family Health, Female, Humans, Magnetic Resonance Imaging, Male, Myoclonic Epilepsies; Progressive, Neural Conduction, Neurologic Examination, Neuropsychological Tests, Young Adult
Elenco autori:
E., Ferlazzo; Italiano, Domenico; I., An; Calarese, Tiziana; V., Laguitton; Bramanti, Placido; P. D., Bella; P., Genton
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