메뉴 건너뛰기




Volumn 35, Issue 7, 2013, Pages 664-666

Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation

Author keywords

Familial occurrence; Paroxysmal dyskinesia; Phenotype; PRRT2; Trigger

Indexed keywords

CARBAMAZEPINE; ETIRACETAM;

EID: 84879459963     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2012.07.018     Document Type: Article
Times cited : (22)

References (10)
  • 1
    • 0029091303 scopus 로고
    • Paroxysmal dyskinesias: clinical features and classification
    • Demirkiran M., Jankovic J. Paroxysmal dyskinesias: clinical features and classification. Ann Neurol 1995, 38:571-579.
    • (1995) Ann Neurol , vol.38 , pp. 571-579
    • Demirkiran, M.1    Jankovic, J.2
  • 2
    • 3142721995 scopus 로고    scopus 로고
    • Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis
    • Rainier S., Thomas D., Tokarz D., Ming L., Bui M., Plein E., et al. Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol 2004, 61:1025-1029.
    • (2004) Arch Neurol , vol.61 , pp. 1025-1029
    • Rainier, S.1    Thomas, D.2    Tokarz, D.3    Ming, L.4    Bui, M.5    Plein, E.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 2011, 43:1252-1255.
    • (2011) Nat Genet , 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
    • 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 2011, 134:3493-3501.
    • (2011) Brain , 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
  • 6
    • 19944402859 scopus 로고    scopus 로고
    • Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria
    • Bruno M.K., Hallett M., Gwinn-Hardy K., Sorensen B., Considine E., Tucker S., et al. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology 2004, 63:2280-2287.
    • (2004) Neurology , vol.63 , pp. 2280-2287
    • Bruno, M.K.1    Hallett, M.2    Gwinn-Hardy, K.3    Sorensen, B.4    Considine, E.5    Tucker, S.6
  • 7
    • 26444503175 scopus 로고    scopus 로고
    • Classification conundrums in paroxysmal dyskinesias: a new subtype or variations on classic themes?
    • Pourfar M.H., Guerrini R., Parain D., Frucht S.J. Classification conundrums in paroxysmal dyskinesias: a new subtype or variations on classic themes?. Mov Disord 2005, 20:1047-1051.
    • (2005) Mov Disord , vol.20 , pp. 1047-1051
    • Pourfar, M.H.1    Guerrini, R.2    Parain, D.3    Frucht, S.J.4
  • 8
    • 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 2012, 90:152-160.
    • (2012) Am J Hum Genet , 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
  • 9
    • 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 2012, 57:338-341.
    • (2012) J Hum Genet , vol.57 , pp. 338-341
    • Ono, S.1    Yoshiura, K.2    Kinoshita, A.3    Kikuchi, T.4    Nakane, Y.5    Kato, N.6
  • 10
    • 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 2012, 49:79-82.
    • (2012) J Med Genet , 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.