Titre:
  • A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping.
Auteur:Berkovic, S F; Mazarib, A; Walid, Simri; Neufeld, M Y; Manelis, Judith; Nevo, Yoram; Korczyn, A D; Yin, Jinggang; Xiong, L; Pandolfo, Massimo; Mulley, John C; Wallace, Robyn H
Informations sur la publication:Brain, 128, Pt 3, page (652-658)
Statut de publication:Publié, 2005-03
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:Epilepsy
Gene mapping
Myoclonus
Photosensitivity
MeSH keywords:Adolescent
Adult
Chromosome Mapping -- methods
Chromosomes, Human, Pair 12 -- genetics
Disease Progression
Electroencephalography
Female
Genotype
Homozygote
Humans
Lod Score
Magnetic Resonance Imaging
Male
Pedigree
Unverricht-Lundborg Syndrome -- genetics
Unverricht-Lundborg Syndrome -- pathology
Unverricht-Lundborg Syndrome -- physiopathology
Note générale:Journal Article
Research Support, Non-U.S. Gov't
Langue:Anglais
Identificateurs:urn:issn:0006-8950
info:doi/10.1093/brain/awh377
info:pii/awh377
info:scp/20144376593
info:pmid/15634728