Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment.
Identifieur interne : 002584 ( Ncbi/Curation ); précédent : 002583; suivant : 002585Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment.
Auteurs : Edoardo Ferlazzo [Italie] ; Domenico Italiano ; Isabelle An ; Tiziana Calarese ; Virginie Laguitton ; Placido Bramanti ; Paolo Di Bella ; Pierre GentonSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
Descripteurs français
- Wicri :
- geographic : Algérie.
English descriptors
- KwdEn :
- Adolescent, Adult, Algeria, Cognition Disorders (complications), Cognition Disorders (genetics), Electroencephalography (methods), Electromyography, Evoked Potentials, Visual, Family Health, Female, Humans, Magnetic Resonance Imaging, Male, Myoclonic Epilepsies, Progressive (complications), Myoclonic Epilepsies, Progressive (genetics), Neural Conduction (physiology), Neurologic Examination, Neuropsychological Tests, Young Adult.
- MESH :
- geographic : Algeria.
- complications : Cognition Disorders, Myoclonic Epilepsies, Progressive.
- genetics : Cognition Disorders, Myoclonic Epilepsies, Progressive.
- methods : Electroencephalography.
- physiology : Neural Conduction.
- Adolescent, Adult, Electromyography, Evoked Potentials, Visual, Family Health, Female, Humans, Magnetic Resonance Imaging, Male, Neurologic Examination, Neuropsychological Tests, Young Adult.
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.
DOI: 10.1002/mds.22489
PubMed: 19243074
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pubmed:19243074Le document en format XML
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first="Tiziana" last="Calarese">Tiziana Calarese</name></author><author><name sortKey="Laguitton, Virginie" sort="Laguitton, Virginie" uniqKey="Laguitton V" first="Virginie" last="Laguitton">Virginie Laguitton</name></author><author><name sortKey="Bramanti, Placido" sort="Bramanti, Placido" uniqKey="Bramanti P" first="Placido" last="Bramanti">Placido Bramanti</name></author><author><name sortKey="Di Bella, Paolo" sort="Di Bella, Paolo" uniqKey="Di Bella P" first="Paolo" last="Di Bella">Paolo Di Bella</name></author><author><name sortKey="Genton, Pierre" sort="Genton, Pierre" uniqKey="Genton P" first="Pierre" last="Genton">Pierre Genton</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2009">2009</date><idno type="doi">10.1002/mds.22489</idno><idno type="RBID">pubmed:19243074</idno><idno type="pmid">19243074</idno><idno type="wicri:Area/PubMed/Corpus">001D93</idno><idno type="wicri:Area/PubMed/Curation">001D93</idno><idno 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