Missense mutations of the proline-rich transmembrane protein 2 gene cosegregate with mild paroxysmal kinesigenic dyskinesia and infantile convulsions in a Chinese pedigree.
Chunquan
C
Cai
Ouyan
O
Shi
Wei-Dong
WD
Li
D017668:Age of Onset; D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D004421:Dystonia / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012640:Seizures / Q000235:genetics*; D055815:Young Adult
D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human