Novel loss-of-function PRRT2 mutation causes paroxysmal kinesigenic dyskinesia in a Han Chinese family

BMC Neurology

Volumn 14, Issue 1, 2014, Pages

  Ji, Zhisong ^a   Su, Quanxi ^b   Hu, Lingling ^a   Yang, Qi ^a   Liu, Cuixian ^a   Xiong, Jun ^a   Xiong, Fu ^a  

^a SOUTHERN MEDICAL UNIVERSITY   (China)

^b Department of Neurology Yunfu People's Hospital   (China)

Author keywords

c.186 187delGC; Novel mutation; PKD; Protein function; PRRT2; Sanger sequencing

Indexed keywords

CARBAMAZEPINE; GREEN FLUORESCENT PROTEIN; MEMBRANE PROTEIN; MESSENGER RNA; MUTANT PROTEIN; PROLINE RICH TRANSMEMBRANE PROTEIN 2; UNCLASSIFIED DRUG; NERVE PROTEIN; PRRT2 PROTEIN, HUMAN;

ADULT; ARTICLE; BIOINFORMATICS; BLOOD SAMPLING; CELLULAR DISTRIBUTION; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; COS 7 CELL LINE; EMBRYO; EXON; FAMILIAL DISEASE; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE SEQUENCE; GENETIC TRANSFECTION; HAPLOINSUFFICIENCY; HEK293 CELL LINE; HUMAN; HUMAN CELL; LOSS OF FUNCTION MUTATION; MIDDLE AGED; MUTATIONAL ANALYSIS; NORMAL HUMAN; PAROXYSMAL KINESIGENIC DYSKINESIA; PATHOGENESIS; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; STABLE EXPRESSION; VENOUS BLOOD; WESTERN BLOTTING; WILD TYPE; ADOLESCENT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CHOREA; GENETICS; MALE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; GENE; GENETIC VARIABILITY; HAN CHINESE; INVESTIGATIVE PROCEDURES; MAJOR CLINICAL STUDY; MULTIGENE FAMILY; PLASMID; PROLINE RICH TRANSMEMBRANE PROTEIN 2 GENE; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; BLOTTING, WESTERN; CHOREA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; REAL-TIME POLYMERASE CHAIN REACTION;

EID: 84904273172     PISSN: None     EISSN: 14712377     Source Type: Journal    
DOI: 10.1186/1471-2377-14-146     Document Type: Article

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