Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.
Paroxysmal kinesigenic dyskinesia is a rare episodic movement disorder that can be isolated or associated with benign infantile seizures as part of choreoathetosis syndrome. Mutations in the PRRT2 gene have been recently identified as a cause of paroxysmal kinesigenic dyskinesia and infantile convulsion and choreoathetosis (ICCA). We reported a PRRT2 heterozygous mutation (c.604-607delTCAC, p.S202Hfs*25) in a 3-generation Chinese family with infantile convulsion and choreoathetosis and paroxysmal kinesigenic dyskinesia. The mutation was present in 5 family members, of which 4 were clinically affected and 1 was an obligate carrier with reduced penetrance of PRRT2. The affected carriers of this mutation presented with a similar type of infantile convulsion during early childhood and developed additional paroxysmal kinesigenic dyskinesia symptoms later in life. In addition, they all had a dramatic clinical response to oxcarbazepine/phenytoin therapy. Reduced penetrance of the PRRT2 mutation in this family could warrant genetic counseling.
Department of Neurology, Children's Hospital of Fudan University, Shanghai, China.
L M
LM
Zhang
Institute of Biomedical Sciences and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China.
Y
Y
An
Department of Neurology, Children's Hospital of Fudan University, Shanghai, China.
G
G
Pan
Department of Neurology, Children's Hospital of Fudan University, Shanghai, China.
Y F
YF
Ding
Department of Neurology, Children's Hospital of Fudan University, Shanghai, China.
Y F
YF
Zhou
Institute of Biomedical Sciences and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China.
Y H
YH
Yao
Institute of Biomedical Sciences and MOE Key Laboratory of Contemporary Anthropology, Fudan University, Shanghai, China.
B L
BL
Wu
Department of Neurology, Children's Hospital of Fudan University, Shanghai, China szzhou@shmu.edu.cn.
S Z
SZ
Zhou
D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D001921:Brain / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D020820:Dyskinesias / Q000235:genetics* / Q000503:physiopathology; D004569:Electroencephalography; D020936:Epilepsy, Benign Neonatal / Q000235:genetics* / Q000503:physiopathology; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D012640:Seizures / Q000235:genetics* / Q000503:physiopathology
D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human
PRRT2; benign familial infantile epilepsy; infantile convulsions and choreoathetosis syndrome; paroxysmal kinesigenic dyskinesia