Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia withPRRT2gene mutations
出版年份 2013 全文链接
标题
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia withPRRT2gene mutations
作者
关键词
-
出版物
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Volume 55, Issue 4, Pages 327-334
出版商
Wiley
发表日期
2013-01-30
DOI
10.1111/dmcn.12056
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome
- (2012) Sarah E. Heron et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine
- (2012) RUSSELL C DALE et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study
- (2012) RUSSELL C DALE et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- PRRT2 Mutations are the major cause of benign familial infantile seizures
- (2012) Julian Schubert et al. HUMAN MUTATION
- Erratum: Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
- (2012) Shinji Ono et al. JOURNAL OF HUMAN GENETICS
- Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia
- (2012) Alexander J. A. Groffen et al. JOURNAL OF NEUROLOGY
- PRRT2 mutations: A major cause of paroxysmal kinesigenic dyskinesia in the European population
- (2012) A. Meneret et al. NEUROLOGY
- PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine
- (2012) A. R. Gardiner et al. NEUROLOGY
- Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot
- (2012) Li Cao et al. PARKINSONISM & RELATED DISORDERS
- Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions
- (2012) Hsien-Yang Lee et al. Cell Reports
- Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
- (2011) J.-L. Wang et al. BRAIN
- Targeted genomic sequencing identifiesPRRT2mutations as a cause of paroxysmal kinesigenic choreoathetosis
- (2011) Jingyun Li et al. JOURNAL OF MEDICAL GENETICS
- Mutations inPRRT2result in paroxysmal dyskinesias with marked variability in clinical expression
- (2011) Qing Liu et al. JOURNAL OF MEDICAL GENETICS
- Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
- (2011) Wan-Jin Chen et al. NATURE GENETICS
- Molecular genetics of migraine
- (2009) Boukje de Vries et al. HUMAN GENETICS
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