A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome
- Author
- BLUMKIN, Lubov1 2 ; KIVITY, Sara1 2 ; LEV, Dorit2 3 4 ; COHEN, Sarit5 ; SHOMRAT, Ruth6 ; LERMAN-SAGIE, Tally1 2 4 ; LESHINSKY-SILVER, Esther2 4 5
[1] Pediatric Neurology, Wolfson Medical Center, Holon, Israel
[2] Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel
[3] Genetics Institute, Wolfson Medical Center, Holon, Israel
[4] Sackler Medical School, Tel Aviv University, Tel Aviv, Israel
[5] Molecular Genetic Laboratory, Wolfson Medical Center, Holon, Israel
[6] Pronto Diagnostics, Ltd, Tel Aviv, Israel - Source
Journal of neurology. = Zeitschrift für Neurologie. 2012, Vol 259, Num 12, pp 2590-2598, 9 p ; ref : 19 ref
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- Corticosteroid treatment Exomics KCTD7 Opsoclonus-myoclonus-ataxia
- Keyword (fr)
- Ataxie Corticostéroïde Délétion Mutation faux sens Myoclonie Opsoclonie Pathologie du système nerveux Traitement Mouvement involontaire Pathologie de l'encéphale Pathologie de l'oeil Pathologie du système nerveux central Syndrome oculomoteur Trouble neurologique
- Keyword (en)
- Ataxia Corticosteroid Deletion Missense mutation Myoclonus Opsoclonus Nervous system diseases Treatment Involuntary movement Cerebral disorder Eye disease Central nervous system disease Oculomotor syndrome Neurological disorder
- Keyword (es)
- Ataxia Corticoesteroide Deleción Mutación falso sentido Mioclonia Opsoclonación Sistema nervioso patología Tratamiento Movimiento involuntario Encéfalo patología Ojo patología Sistema nervosio central patología Oculomotricidad síndrome Trastorno neurológico
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17G Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 26691076
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1007/s00415-012-6545-z 
https://dx.doi.org/10.1007/s00415-012-6545-z
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