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Volumn 19, Issue 6, 2013, Pages 639-642
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A novel mutation and functional implications of 5 variants in the PRRT2 gene in 20 paroxysmal kinesigenic dyskinesia pedigrees
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Author keywords
Genetic variation; Paroxysmal kinesigenic dyskinesia; PRRT2
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Indexed keywords
ADOLESCENT;
ADULT;
CLINICAL ARTICLE;
CONTROLLED STUDY;
DISEASE COURSE;
FEMALE;
GENE;
GENE FREQUENCY;
GENE FUNCTION;
GENE MUTATION;
GENETIC ANALYSIS;
GENETIC CODE;
GENETIC VARIABILITY;
GENOTYPE;
HUMAN;
LETTER;
MALE;
MIDDLE AGED;
MUTATIONAL ANALYSIS;
PAROXYSMAL KINESIGENIC DYSKINESIA;
PATHOGENESIS;
PEDIGREE;
PHENOTYPE;
PRIORITY JOURNAL;
PRRT2 GENE;
SEQUENCE ANALYSIS;
YOUNG ADULT;
CHOREA;
DYSTONIA;
FAMILY HEALTH;
GENETIC PREDISPOSITION;
GENETICS;
MUTATION;
NUCLEOTIDE SEQUENCE;
MEMBRANE PROTEIN;
NERVE PROTEIN;
PRRT2 PROTEIN, HUMAN;
ADOLESCENT;
ADULT;
CHOREA;
DNA MUTATIONAL ANALYSIS;
DYSTONIA;
FAMILY HEALTH;
FEMALE;
GENETIC PREDISPOSITION TO DISEASE;
GENOTYPE;
HUMANS;
MALE;
MEMBRANE PROTEINS;
MIDDLE AGED;
MUTATION;
NERVE TISSUE PROTEINS;
PEDIGREE;
YOUNG ADULT;
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EID: 84891621711
PISSN: 13538020
EISSN: 18735126
Source Type: Journal
DOI: 10.1016/j.parkreldis.2013.02.015 Document Type: Letter |
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Times cited : (8)
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References (5)
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