A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.
Identifieur interne : 000B12 ( PubMed/Curation ); précédent : 000B11; suivant : 000B13A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy.
Auteurs : Yuichi Higashiyama ; Hiroshi Doi ; Masatoshi Wakabayashi ; Yoshinori Tsurusaki ; Noriko Miyake ; Hirotomo Saitsu ; Chihiro Ohba ; Ryoko Fukai ; Satoko Miyatake ; Hideto Joki ; Shigeru Koyano ; Yume Suzuki ; Fumiaki Tanaka ; Yoshiyuki Kuroiwa ; Naomichi MatsumotoSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- Age of Onset, Aged, Female, Genetic Predisposition to Disease, Humans, Lysosome-Associated Membrane Glycoproteins (genetics), Male, Middle Aged, Mutation (genetics), Myoclonic Epilepsies, Progressive (diagnosis), Myoclonic Epilepsies, Progressive (genetics), Myoclonus (pathology), Pedigree, Receptors, Scavenger (genetics).
- MESH :
- chemical , genetics : Lysosome-Associated Membrane Glycoproteins, Receptors, Scavenger.
- diagnosis : Myoclonic Epilepsies, Progressive.
- genetics : Mutation, Myoclonic Epilepsies, Progressive.
- pathology : Myoclonus.
- Age of Onset, Aged, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Pedigree.
DOI: 10.1002/mds.25296
PubMed: 23325613
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pubmed:23325613Le document en format XML
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