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Volumn 35, Issue 6, 2013, Pages 524-530

Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis

(19)  Ishii, Atsushi a   Yasumoto, Sawa a   Ihara, Yukiko a   Inoue, Takahito a   Fujita, Takako a   Nakamura, Noriko a   Ohfu, Masaharu a   Yamashita, Yushiro b   Takatsuka, Hideo c   Taga, Toshiaki d   Miyata, Rie e   Ito, Masahiro f   Tsuchiya, Hiroshi g   Matsuoka, Taro h   Kitao, Tetsuya i   Murakami, Kiyotaka i   Lee, Wang Tso j   Kaneko, Sunao k   Hirose, Shinichi a  


Author keywords

Benign convulsions with mild gastroenteritis (CwG); Benign familial infantile epilepsy (BFIE); Benign familial neonatal epilepsy (BFNE); Infantile convulsion with paroxysmal choreoathetosis (ICCA); Paroxysmal kinesigenic choreoathetosis (PKC); PRRT2

Indexed keywords

CARBAMAZEPINE; LIDOCAINE; MEMBRANE PROTEIN; PHENYTOIN; PPRT2 PROTEIN; UNCLASSIFIED DRUG; VALPROIC ACID;

EID: 84876800445     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2012.09.006     Document Type: Article
Times cited : (28)

References (28)
  • 1
    • 0035097981 scopus 로고    scopus 로고
    • Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome
    • 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 (in eng) 2001, 68:788-794.
    • (2001) Am J Hum Genet (in eng) , vol.68 , pp. 788-794
    • Caraballo, R.1    Pavek, S.2    Lemainque, A.3    Gastaldi, M.4    Echenne, B.5    Motte, J.6
  • 2
    • 0030766418 scopus 로고    scopus 로고
    • Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16
    • Szepetowski P., Rochette J., Berquin P., Piussan C., Lathrop G.M., Monaco A.P. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet (in Eng) 1997, 61:889-898.
    • (1997) Am J Hum Genet (in Eng) , vol.61 , pp. 889-898
    • Szepetowski, P.1    Rochette, J.2    Berquin, P.3    Piussan, C.4    Lathrop, G.M.5    Monaco, A.P.6
  • 3
    • 82255186531 scopus 로고    scopus 로고
    • Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
    • 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 (in Eng) 2011, 43:1252-1255.
    • (2011) Nat Genet (in Eng) , vol.43 , pp. 1252-1255
    • Chen, W.J.1    Lin, Y.2    Xiong, Z.Q.3    Wei, W.4    Ni, W.5    Tan, G.H.6
  • 4
    • 84855827661 scopus 로고    scopus 로고
    • PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
    • Heron S.E., Grinton B.E., Kivity S., Afawi Z., Zuberi S.M., Hughes J.N., et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet (in Eng) 2012, 90:152-160.
    • (2012) Am J Hum Genet (in Eng) , vol.90 , pp. 152-160
    • Heron, S.E.1    Grinton, B.E.2    Kivity, S.3    Afawi, Z.4    Zuberi, S.M.5    Hughes, J.N.6
  • 5
    • 0027979149 scopus 로고
    • Rotaviral gastrointestinal infection causing afebrile seizures in infancy and childhood
    • Contino M.F., Lebby T., Arcinue E.L. Rotaviral gastrointestinal infection causing afebrile seizures in infancy and childhood. Am J Emerg Med (in Eng) 1994, 12:94-95.
    • (1994) Am J Emerg Med (in Eng) , vol.12 , pp. 94-95
    • Contino, M.F.1    Lebby, T.2    Arcinue, E.L.3
  • 6
    • 34548690100 scopus 로고    scopus 로고
    • Benign infantile convulsions associated with mild gastroenteritis: a retrospective study of 39 cases including virological tests and efficacy of anticonvulsants
    • Kawano G., Oshige K., Syutou S., Koteda Y., Yokoyama T., Kim B.G., et al. Benign infantile convulsions associated with mild gastroenteritis: a retrospective study of 39 cases including virological tests and efficacy of anticonvulsants. Brain Dev (in Eng) 2007, 29:617-622.
    • (2007) Brain Dev (in Eng) , vol.29 , pp. 617-622
    • Kawano, G.1    Oshige, K.2    Syutou, S.3    Koteda, Y.4    Yokoyama, T.5    Kim, B.G.6
  • 9
    • 0031974209 scopus 로고    scopus 로고
    • A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
    • Charlier C., Singh N.A., Ryan S.G., Lewis T.B., Reus B.E., Leach R.J., et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet (in Eng) 1998, 18:53-55.
    • (1998) Nat Genet (in Eng) , vol.18 , pp. 53-55
    • Charlier, C.1    Singh, N.A.2    Ryan, S.G.3    Lewis, T.B.4    Reus, B.E.5    Leach, R.J.6
  • 11
    • 33745286460 scopus 로고    scopus 로고
    • A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25years
    • de Haan G.J., Pinto D., Carton D., Bader A., Witte J., Peters E., et al. A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25years. Epilepsia (in Eng) 2006, 47:851-859.
    • (2006) Epilepsia (in Eng) , vol.47 , pp. 851-859
    • de Haan, G.J.1    Pinto, D.2    Carton, D.3    Bader, A.4    Witte, J.5    Peters, E.6
  • 12
    • 0034308174 scopus 로고    scopus 로고
    • Are some idiopathic epilepsies disorders of ion channels?: a working hypothesis
    • Hirose S., Okada M., Kaneko S., Mitsudome A. Are some idiopathic epilepsies disorders of ion channels?: a working hypothesis. Epilepsy Res (in Eng) 2000, 41:191-204.
    • (2000) Epilepsy Res (in Eng) , vol.41 , pp. 191-204
    • Hirose, S.1    Okada, M.2    Kaneko, S.3    Mitsudome, A.4
  • 13
    • 18844468798 scopus 로고    scopus 로고
    • A novel mutation of KCNQ3 (c.925T -->C) in a Japanese family with benign familial neonatal convulsions
    • Hirose S., Zenri F., Akiyoshi H., Fukuma G., Iwata H., Inoue T., et al. A novel mutation of KCNQ3 (c.925T -->C) in a Japanese family with benign familial neonatal convulsions. Ann Neurol (in Eng) 2000, 47:822-826.
    • (2000) Ann Neurol (in Eng) , vol.47 , pp. 822-826
    • Hirose, S.1    Zenri, F.2    Akiyoshi, H.3    Fukuma, G.4    Iwata, H.5    Inoue, T.6
  • 17
    • 0033544326 scopus 로고    scopus 로고
    • A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy
    • Hirose S., Iwata H., Akiyoshi H., Kobayashi K., Ito M., Wada K., et al. A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. Neurology (in Eng) 1999, 53:1749-1753.
    • (1999) Neurology (in Eng) , vol.53 , pp. 1749-1753
    • Hirose, S.1    Iwata, H.2    Akiyoshi, H.3    Kobayashi, K.4    Ito, M.5    Wada, K.6
  • 18
    • 77954386059 scopus 로고    scopus 로고
    • Positive association between benign familial infantile convulsions and LGI4
    • Ishii A., Zhang B., Kaneko S., Hirose S. Positive association between benign familial infantile convulsions and LGI4. Brain Dev (in Eng) 2010, 32:538-543.
    • (2010) Brain Dev (in Eng) , vol.32 , pp. 538-543
    • Ishii, A.1    Zhang, B.2    Kaneko, S.3    Hirose, S.4
  • 19
    • 84862811273 scopus 로고    scopus 로고
    • Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot
    • Cao L., Huang X.J., Zheng L., Xiao Q., Wang X.J., Chen S.D. Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot. Parkinsonism Relat Disord (in Eng) 2012.
    • (2012) Parkinsonism Relat Disord (in Eng)
    • Cao, L.1    Huang, X.J.2    Zheng, L.3    Xiao, Q.4    Wang, X.J.5    Chen, S.D.6
  • 20
    • 84862776732 scopus 로고    scopus 로고
    • Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis
    • Li J., Zhu X., Wang X., Sun W., Feng B., Du T., et al. Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis. J Med Genet (in Eng) 2012, 49:76-78.
    • (2012) J Med Genet (in Eng) , vol.49 , pp. 76-78
    • Li, J.1    Zhu, X.2    Wang, X.3    Sun, W.4    Feng, B.5    Du, T.6
  • 21
    • 84862912899 scopus 로고    scopus 로고
    • Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression
    • Liu Q., Qi Z., Wan X.H., Li J.Y., Shi L., Lu Q., et al. Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression. J Med Genet (in Eng) 2012, 49:79-82.
    • (2012) J Med Genet (in Eng) , vol.49 , pp. 79-82
    • Liu, Q.1    Qi, Z.2    Wan, X.H.3    Li, J.Y.4    Shi, L.5    Lu, Q.6
  • 22
    • 83755205987 scopus 로고    scopus 로고
    • Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias
    • 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 (in Eng) 2011, 134:3493-3501.
    • (2011) Brain (in Eng) , vol.134 , pp. 3493-3501
    • Wang, J.L.1    Cao, L.2    Li, X.H.3    Hu, Z.M.4    Li, J.D.5    Zhang, J.G.6
  • 23
    • 84861640003 scopus 로고    scopus 로고
    • Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
    • Ono S., Yoshiura K., Kinoshita A., Kikuchi T., Nakane Y., Kato N., et al. Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. J Hum Genet (in Eng) 2012, 57:338-341.
    • (2012) J Hum Genet (in Eng) , vol.57 , pp. 338-341
    • Ono, S.1    Yoshiura, K.2    Kinoshita, A.3    Kikuchi, T.4    Nakane, Y.5    Kato, N.6
  • 24
    • 84856144700 scopus 로고    scopus 로고
    • Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
    • Lee H.-Y., Huang Y., Bruneau N., Roll P., Roberson Elisha D.O., Hermann M., et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 2012, 1:2-12.
    • (2012) Cell Rep , vol.1 , pp. 2-12
    • Lee, H.-Y.1    Huang, Y.2    Bruneau, N.3    Roll, P.4    Roberson Elisha, D.O.5    Hermann, M.6
  • 25
    • 0028107857 scopus 로고
    • Cloning and sequence analysis of the human SNAP25 cDNA
    • Zhao N., Hashida H., Takahashi N., Sakaki Y. Cloning and sequence analysis of the human SNAP25 cDNA. Gene (in Eng) 1994, 145:313-314.
    • (1994) Gene (in Eng) , vol.145 , pp. 313-314
    • Zhao, N.1    Hashida, H.2    Takahashi, N.3    Sakaki, Y.4
  • 26
    • 0031671890 scopus 로고    scopus 로고
    • Interactions between presynaptic calcium channels and proteins implicated in synaptic vesicle trafficking and exocytosis
    • Seagar M., Takahashi M. Interactions between presynaptic calcium channels and proteins implicated in synaptic vesicle trafficking and exocytosis. J Bioenerg Biomembr (in Eng) 1998, 30:347-356.
    • (1998) J Bioenerg Biomembr (in Eng) , vol.30 , pp. 347-356
    • Seagar, M.1    Takahashi, M.2
  • 27
    • 0030048838 scopus 로고    scopus 로고
    • Calcium-dependent interaction of N-type calcium channels with the synaptic core complex
    • Sheng Z.H., Rettig J., Cook T., Catterall W.A. Calcium-dependent interaction of N-type calcium channels with the synaptic core complex. Nature (in Eng) 1996, 379:451-454.
    • (1996) Nature (in Eng) , vol.379 , pp. 451-454
    • Sheng, Z.H.1    Rettig, J.2    Cook, T.3    Catterall, W.A.4
  • 28
    • 10744223345 scopus 로고    scopus 로고
    • SNAP-25 modulation of calcium dynamics underlies differences in GABAergic and glutamatergic responsiveness to depolarization
    • Verderio C., Pozzi D., Pravettoni E., Inverardi F., Schenk U., Coco S., et al. SNAP-25 modulation of calcium dynamics underlies differences in GABAergic and glutamatergic responsiveness to depolarization. Neuron (in Eng) 2004, 41:599-610.
    • (2004) Neuron (in Eng) , vol.41 , pp. 599-610
    • Verderio, C.1    Pozzi, D.2    Pravettoni, E.3    Inverardi, F.4    Schenk, U.5    Coco, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.