Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment
| Autor: | Virginie Laguitton, Tiziana Calarese, I An, Edoardo Ferlazzo, Domenico Italiano, Pierre Genton, Paolo Di Bella, Placido Bramanti |
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| Rok vydání: | 2009 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty Pediatrics Cognitive disorder Neurological disorder Disease Progressive myoclonus epilepsy medicine.disease nervous system diseases Central nervous system disease Degenerative disease Neurology mental disorders Convulsion medicine Neurology (clinical) medicine.symptom Psychiatry Psychology Myoclonus |
| Zdroj: | Movement Disorders. 24:1016-1022 |
| ISSN: | 0885-3185 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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