{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T07:39:21Z","timestamp":1790235561816,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,12,21]],"date-time":"2012-12-21T00:00:00Z","timestamp":1356048000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Brain and Behavior"],"published-print":{"date-parts":[[2013,3]]},"abstract":"Paroxysmal dyskinesias (PDs<\/jats:styled-content>) are a group of episodic movement disorders with marked variability in clinical manifestation and potential association with epilepsy. PRRT2<\/jats:styled-content><\/jats:italic> has been identified as a causative gene for PDs<\/jats:styled-content>, but the phenotypes and inheritance patterns of PRRT2<\/jats:styled-content><\/jats:italic> mutations need further clarification. In this study, 10 familial and 21 sporadic cases with PDs<\/jats:styled-content> and PDs<\/jats:styled-content>\u2010related phenotypes were collected. Genomic DNA<\/jats:styled-content> was screened for PRRT2<\/jats:styled-content><\/jats:italic> mutations by direct sequencing. Seven PRRT2<\/jats:styled-content><\/jats:italic> mutations were identified in nine (90.0%) familial cases and in six (28.6%) sporadic cases. Five mutations are novel: two missense mutations (c.647C<\/jats:styled-content>>G\/p.Pro216Arg<\/jats:styled-content> and c.872C<\/jats:styled-content>>T\/p.Ala291Val<\/jats:styled-content>) and three truncating mutations (c.117delA<\/jats:styled-content>\/p.Val41TyrfsX49<\/jats:styled-content>, c.510dupT<\/jats:styled-content>\/p.Leu171SerfsX3<\/jats:styled-content> and c.579dupA<\/jats:styled-content>\/p.Glu194<\/jats:styled-content>ArgfsX6<\/jats:styled-content>). Autosomal dominant inheritance with incomplete penetrance was observed in most of the familial cases. In the sporadic cases, inheritance was heterogeneous including recessive inheritance with compound heterozygous mutations, inherited mutations with incomplete parental penetrance and de novo<\/jats:italic> mutation. Variant phenotypes associated with PRRT2<\/jats:styled-content><\/jats:italic> mutations, found in 36.0% of the affected cases, included febrile convulsions, epilepsy, infantile non\u2010convulsive seizures (INCS<\/jats:styled-content>) and nocturnal convulsions (NC<\/jats:styled-content>). All patients with INCS<\/jats:styled-content> or NC<\/jats:styled-content>, not reported previously, displayed abnormalities on electroencephalogram (EEG<\/jats:styled-content>). No EEG<\/jats:styled-content> abnormalities were recorded in patients with classical infantile convulsions and paroxysmal choreoathetosis (ICCA<\/jats:styled-content>)\/paroxysmal kinesigenic dyskinesia (PKD<\/jats:styled-content>). Our study further confirms that PRRT2<\/jats:styled-content><\/jats:italic> mutations are the most common cause of familial PDs<\/jats:styled-content>, displaying both dominant and recessive inheritance. Epilepsy may occasionally occur in ICCA<\/jats:styled-content>\/PKD<\/jats:styled-content> patients with PRRT2<\/jats:styled-content><\/jats:italic> mutations. Variant phenotypes INCS<\/jats:styled-content> or NC<\/jats:styled-content> differ from classical ICCA<\/jats:styled-content>\/PKD<\/jats:styled-content> clinically and electroencephalographically. They have some similarities with, but not identical to epilepsy, possibly represent an overlap between ICCA<\/jats:styled-content>\/PKD<\/jats:styled-content> and epilepsy<\/jats:bold>.<\/jats:p>","DOI":"10.1111\/gbb.12008","type":"journal-article","created":{"date-parts":[[2012,11,29]],"date-time":"2012-11-29T01:14:24Z","timestamp":1354151664000},"page":"234-240","source":"Crossref","is-referenced-by-count":43,"title":["Novel PRRT2<\/scp><\/i> mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes"],"prefix":"10.1111","volume":"12","author":[{"given":"X.\u2010R.","family":"Liu","sequence":"first","affiliation":[{"name":"Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China Institute of Neuroscience and the Second Affiliated Hospital of Guangzhou Medical University Guangzhou 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Affiliated Hospital of Guangzhou Medical University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Wen","sequence":"additional","affiliation":[{"name":"Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China Institute of Neuroscience and the Second Affiliated Hospital of Guangzhou Medical University Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.\u2010L.","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology Xiangya Hospital, Central South University Changsha China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.\u2010P.","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Foshan Women and Children Hospital Foshan Guangdong 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