Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

Journal of Human Genetics

Volumn 57, Issue 5, 2012, Pages 338-341

  Ono, Shinji ^a   Yoshiura, Koh Ichiro ^b   Kinoshita, Akira ^b   Kikuchi, Taeko ^a   Nakane, Yoshibumi ^a   Kato, Nobumasa ^c   Sadamatsu, Miyuki ^d   Konishi, Tohru ^e   Nagamitsu, Shinichiro ^f   Matsuura, Masato ^g   Yasuda, Ayako ^h   Komine, Maki ⁱ   Kanai, Kazuaki ^j   Inoue, Takeshi ^k   Osamura, Toshio ^l   Saito, Kayoko ^m   Hirose, Shinichi ⁿ   Koide, Hiroyoshi ^o   Tomita, Hiroaki ^p   Ozawa, Hiroki ^a   Niikawa, Norio ^q   Kurotaki, Naohiro ^a   more..

^a NAGASAKI UNIVERSITY HOSPITAL   (Japan)

^b NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^c SHOWA UNIVERSITY   (Japan)

^d NARA MEDICAL UNIVERSITY   (Japan)

^e Nagaoka Ryoikuen   (Japan)

^f KURUME UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^h JAPANESE RED CROSS NAGOYA FIRST HOSPITAL   (Japan)

ⁱ TOKYO WOMEN S MEDICAL UNIVERSITY MEDICAL CENTER EAST   (Japan)

^j CHIBA UNIVERSITY   (Japan)

^k OSAKA CITY GENERAL HOSPITAL   (Japan)

^l KYOTO SECOND RED CROSS HOSPITAL   (Japan)

^m TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

ⁿ FUKUOKA UNIVERSITY   (Japan)

^o Hello Clinic   (Japan)

^p TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^q HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

more..

Author keywords

benign familial infantile convulsion; mutation analysis; paroxysmal kinesigenic dyskinesia; PRRT2

Indexed keywords

MEMBRANE PROTEIN; PROTEIN RICH TRANSMEMBRANE PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; BENIGN CHILDHOOD EPILEPSY; BENIGN FAMILIAL INFANTILE CONVULSION; DYSKINESIA; FEMALE; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; PAROXYSMAL KINESIGENIC DYSKINESIA; SINGLE NUCLEOTIDE POLYMORPHISM;

ASIAN CONTINENTAL ANCESTRY GROUP; CHOREA; DNA MUTATIONAL ANALYSIS; EPILEPSY, BENIGN NEONATAL; FAMILY; HUMANS; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE;

EID: 84861640003     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.23     Document Type: Article

References (11)

1. Tomita, H., Nagamitsu, S., Wakui, K., Fukushima, Y., Yamada, K., Sadamatsu, M. et al. Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. Am. J. Hum. Genet. 65, 1688-1697 (1999
2. Bruno, M. K., Hallett, M., Gwinn-Hardy, K., Sorensen, B., Considine, E. & Tucker, S. Clinical evaluation of idiopathic paroxysmalkinesigenic dyskinesia: new diagnostic criteria. Neurology 63, 2280-2287 (2004
3. Kato, N., Sadamatsu, M., Kikuchi, T., Niikawa, N. & Fukuyama, Y. Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions. Epilepsy Res. 70(Suppl 1), S174-84 (2006
4. Bhatia, K. P. The paroxysmal dyskinesias. J. Neurol. 246, 149-155 (1999
5. Kikuchi, T., Nomura, M., Tomita, H., Harada, N., Kanai, K., Konishi, T. et al. Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11- q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families. J. Hum. Genet. 52, 334-341 (2007
6. Ono, S., Yoshiura, K., Kurotaki, N., Kikuchi, T., Niikawa, N. & Kinoshita, A. Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families. Mov. Disord. 26, 761-763 (2011
7. Chen, W. J., Lin, Y., Xiong, Z. Q., Wei, W., Ni, W., Tan, G. H. et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat. Genet. 43, 1252-1255 (2011
8. Caraballo, R., Pavek, S., Lemainque, A., Gastaldi, M., Echenne, B., Motte, J. et al. Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. Am. J. Hum. Genet. 68, 788-794 (2001
9. Abecasis, G. R., Cherny, S. S., Cookson, W. O. & Cardon, L. R. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet. 30, 97-101 (2002
10. Wang, J. L., Cao, L., Li, X. H., Hu, Z. M., Li, J. D., Zhang, J. G. et al. Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias. Brain 134(Part 12), 3493-3501 (2011
11. Swoboda, K. J., Soong, B., McKenna, C., Brunt, E. R., Litt, M., Bale, J. F. Jr et al. Paroxysmal kinesigenic dyskinesia and infantile convulsions: clinical and linkage studies. Neurology 55, 224-230 (2000)