Missense mutations of the proline-rich transmembrane protein 2 gene cosegregate with mild paroxysmal kinesigenic dyskinesia and infantile convulsions in a Chinese pedigree

Parkinsonism and Related Disorders

Volumn 19, Issue 3, 2013, Pages 402-403

  Cai, Chunquan ^a,b   Shi, Ouyan ^b   Li, Wei Dong ^b  

^a TIANJIN CHILDREN S HOSPITAL   (China)

^b TIANJIN MEDICAL UNIVERSITY   (China)

Author keywords

Infantile convulsions; Missense mutations; Paroxysmal kinesigenic dyskinesia; Proline rich transmembrane protein 2

Indexed keywords

DNA; PHENYTOIN; PROLINE RICH PROTEIN; PROLINE RICH TRANSMEMBRANE PROTEIN 2; TOPIRAMATE; UNCLASSIFIED DRUG; VALPROIC ACID;

BENIGN CHILDHOOD EPILEPSY; BLOOD SAMPLING; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; DNA DETERMINATION; DYSKINESIA; FAMILY ASSESSMENT; FEBRILE CONVULSION; FEMALE; GENE; GENE SEQUENCE; HUMAN; INFANT; LETTER; MALE; MISSENSE MUTATION; ONSET AGE; PAROXYSMAL KINESIGENIC DYSKINESIA; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PRRT2 GENE; UNCONSCIOUSNESS;

AGE OF ONSET; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD, PRESCHOOL; DYSTONIA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; SEIZURES; YOUNG ADULT;

EID: 84874252008     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2012.08.014     Document Type: Letter

References (5)

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5. Lee H.Y., Huang Y., Bruneau N., Roll P., Roberson E.D., Hermann M., et al. Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 2012, 1:2-12.