Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression

Journal of Medical Genetics

Volumn 49, Issue 2, 2012, Pages 79-82

  Liu, Qing ^a   Qi, Zhan ^b   Wan, Xin Hua ^a   Li, Jing Yun ^b   Shi, Lei ^b   Lu, Qiang ^a   Zhou, Xiang Qin ^a   Qiao, Lei ^a   Wu, Li Wen ^a   Liu, Xiu Qin ^a   Yang, Wei ^b   Liu, Ying ^b   Cui, Li Ying ^a   Zhang, Xue ^a,b  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CYSTEINE; GLYCINE; MEMBRANE PROTEIN; PROLINE RICH TRANSMEMBRANE PROTEIN 2; THREONINE; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CHOREOATHETOSIS; CONVULSION; DYSKINESIA; EXERCISE INDUCED PAROXYSMAL DYSKINESIA; FRAMESHIFT MUTATION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; HUMAN; INFANTILE CONVULSION WITH PAROXYSMAL CHOREOATHETOSIS; KINESIGENIC PAROXYSMAL DYSKINESIA; MISSENSE MUTATION; NON KINESIGENIC PAROXYSMAL DYSKINESIA; PHENOTYPE; PRIORITY JOURNAL;

CHOREA; DIAGNOSIS, DIFFERENTIAL; GENE ORDER; HUMANS; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE;

EID: 84862912899     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100653     Document Type: Article

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