标题
Re-evaluation of PRRT2 mutations in paroxysmal disorders
作者
关键词
<em class=EmphasisTypeItalic >PRRT2</em>, Mutations, Paroxysmal kinesigenic dyskinesia, Infantile convulsions with choreoathetosis syndrome, Seizures
出版物
JOURNAL OF NEUROLOGY
Volume 261, Issue 5, Pages 951-953
出版商
Springer Nature
发表日期
2014-03-08
DOI
10.1007/s00415-014-7305-z
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。- Mutations inPRRT2are not a common cause of infantile epileptic encephalopathies
- (2013) Sarah E. Heron et al. EPILEPSIA
- PRRT2mutations and paroxysmal disorders
- (2013) A. Méneret et al. EUROPEAN JOURNAL OF NEUROLOGY
- Role ofPRRT2in common paroxysmal neurological disorders: a gene with remarkable pleiotropy
- (2013) Sarah E Heron et al. JOURNAL OF MEDICAL GENETICS
- PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome
- (2012) Sarah E. Heron et al. AMERICAN JOURNAL OF HUMAN GENETICS
- PRRT2 mutation in Japanese children with benign infantile epilepsy
- (2012) Akihisa Okumura et al. BRAIN & DEVELOPMENT
- Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine
- (2012) RUSSELL C DALE et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- NovelPRRT2mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes
- (2012) X.-R. Liu et al. GENES BRAIN AND BEHAVIOR
- Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation
- (2012) Una-Marie Sheerin et al. JOURNAL OF NEUROLOGY
- PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures
- (2012) I. E. Scheffer et al. NEUROLOGY
- PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
- (2012) C. Marini et al. NEUROLOGY
- PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine
- (2012) R. Cloarec et al. 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
- PRRT2 mutations cause hemiplegic migraine
- (2012) F. Riant et al. NEUROLOGY
- Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions
- (2012) Hsien-Yang Lee et al. Cell Reports
- 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
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