Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME
- Author
- MOORE, Tom1 ; HECQUET, Stéphane2 ; NASHEF, Lina10 9 ; FROGUEL, Philippe2 ; ARZIMANOGLOU, Alexis11 ; LEGUERN, Eric12 ; BAILLEUL, Bernard2 ; MCLELLANN, Andrew3 ; VILLE, Dorothée4 ; GRID, Djamel4 ; PICARD, Fabienne5 ; MOULARD, Bruno6 ; ASHERSON, Philip7 ; MAKOFF, Andrew J8 ; MCCORMICK, David9
[1] Department of Biochemistry, University College Cork, Lee Maltings, Prospect Row, Cork, Ireland
[2] Laboratoire de Génétique des Maladies Multifactorielles, CNRS UPRES A 8090, Institut de Biologie de Lille, Lille, France
[3] Babraham Institute, Cambridge CB2 4AT, United Kingdom
[4] Genethon, rue de l'Internationale, 91000 Evry, France
[5] Département de Neurologie, Hôpital Universitaire de Genéve, Geneve, Switzerland
[6] Département de Psychiatrie, Hôpital Universitaire de Genéve, Geneva, Switzerland
[7] Social Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry Hill, London SE5 8AF, United Kingdom
[8] Department of Psychological Medicine, Institute of Psychiatry Hill, London SE5 8AF, United Kingdom
[9] Kent and Canterbury Hospital, Canterbury CT1 3NG, United Kingdom
[10] Department of Neurology, King's College Hospital, Hill, London SES 9RS, United Kingdom
[11] Department of Child Neurology and Metabolic Disorders, Hôpital Robert Debre, Paris, France
[12] INSERM U.289, Fédération de Neurologie, Hopital de la Salpètrière, Batiment Nouvelle Pharmacie, Paris, France - Source
Epilepsy research. 2001, Vol 46, Num 2, pp 157-167 ; ref : 26 ref
- Publisher
- Elsevier, Amsterdam
- Publication country
- Netherlands
- Document type
- Article
- Language
- English
- Keyword (fr)
- Caractère juvénile Déterminisme génétique Epilepsie Etude cas Evolution Gène Haplotype Homme Locus Mutation Myoclonie Pathogénie Petit mal Polymorphisme Encéphale pathologie Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Juvenile character Genetic determinism Epilepsy Case study Evolution Gene Haplotype Human Locus Mutation Myoclonus Pathogenesis Petit mal Polymorphism Cerebral disorder Central nervous system disease Nervous system diseases
- Keyword (es)
- Carácter juvenil Determinismo genético Epilepsia Estudio caso Evolución Gen Haplotipo Hombre Locus Mutación Mioclonia Patogenia Pequeño mal Polimorfismo Encéfalo patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17A Nervous system (semeiology, syndromes) / 002B17A03 Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
- Discipline
- Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 1076343
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
10.1016/S0920-1211(01)00275-3 
https://dx.doi.org/10.1016/S0920-1211(01)00275-3
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