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Volumn 31, Issue 8, 2016, Pages 1057-1061

The Genetics of Benign Paroxysmal Torticollis of Infancy

Author keywords

benign paroxysmal torticollis of infancy; CACNA1A; genetics; migraine; polymorphisms; PRRT2

Indexed keywords

CACNA1A; UNCLASSIFIED DRUG; VOLTAGE GATED CALCIUM CHANNEL; CACNA1A PROTEIN, HUMAN; CALCIUM CHANNEL;

EID: 84974695776     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073816636226     Document Type: Article
Times cited : (31)

References (18)
  • 1
    • 0036077774 scopus 로고    scopus 로고
    • Benign paroxysmal torticollis of infancy: Four new cases and linkage to CACNA1A mutation
    • Giffin NJ, Benton S, Goadsby PJ,. Benign paroxysmal torticollis of infancy: four new cases and linkage to CACNA1A mutation. Dev Med Child Neurol. 2002; 44 (7): 490-493.
    • (2002) Dev Med Child Neurol , vol.44 , Issue.7 , pp. 490-493
    • Giffin, N.J.1    Benton, S.2    Goadsby, P.J.3
  • 2
    • 59649084408 scopus 로고    scopus 로고
    • The neurology of benign paroxysmal torticollis of infancy: Report of 10 new cases and review of the literature
    • Rosman NP, Douglass LM, Sharif UM, Paolini J,. The neurology of benign paroxysmal torticollis of infancy: report of 10 new cases and review of the literature. J Child Neurol. 2009; 24 (2): 155-160.
    • (2009) J Child Neurol , vol.24 , Issue.2 , pp. 155-160
    • Rosman, N.P.1    Douglass, L.M.2    Sharif, U.M.3    Paolini, J.4
  • 3
    • 0036285906 scopus 로고    scopus 로고
    • Pediatric migraine equivalents: Occurrence and clinical features in practice
    • Al-Twaijri WA, Shevell MI,. Pediatric migraine equivalents: occurrence and clinical features in practice. Pediatr Neurol. 2002; 26 (5): 365-368.
    • (2002) Pediatr Neurol , vol.26 , Issue.5 , pp. 365-368
    • Al-Twaijri, W.A.1    Shevell, M.I.2
  • 4
    • 0035811775 scopus 로고    scopus 로고
    • The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel
    • Ducros A, Denier C, Joutel A, et al. The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. N Engl J Med. 2001; 345 (1): 17-24.
    • (2001) N Engl J Med , vol.345 , Issue.1 , pp. 17-24
    • Ducros, A.1    Denier, C.2    Joutel, A.3
  • 5
    • 67649528147 scopus 로고    scopus 로고
    • The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition
    • Serra SA, Fernandez-Castillo N, Macaya A, et al. The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition. Pflugers Arch. 2009; 458 (3): 489-502.
    • (2009) Pflugers Arch , vol.458 , Issue.3 , pp. 489-502
    • Serra, S.A.1    Fernandez-Castillo, N.2    MacAya, A.3
  • 6
    • 51649112972 scopus 로고    scopus 로고
    • Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes
    • Cuenca-Leon E, Corominas R, Fernandez-Castillo N, et al. Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes. Cephalalgia. 2008; 28 (10): 1039-1047.
    • (2008) Cephalalgia , vol.28 , Issue.10 , pp. 1039-1047
    • Cuenca-Leon, E.1    Corominas, R.2    Fernandez-Castillo, N.3
  • 7
    • 56349160499 scopus 로고    scopus 로고
    • Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family
    • Roubertie A, Echenne B, Leydet J, et al. Benign paroxysmal tonic upgaze, benign paroxysmal torticollis, episodic ataxia and CACNA1A mutation in a family. J Neurol. 2008; 255 (10): 1600-1602.
    • (2008) J Neurol , vol.255 , Issue.10 , pp. 1600-1602
    • Roubertie, A.1    Echenne, B.2    Leydet, J.3
  • 8
    • 84899923248 scopus 로고    scopus 로고
    • A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy
    • Vila-Pueyo M, Gene GG, Flotats-Bastardes M, et al. A loss-of-function CACNA1A mutation causing benign paroxysmal torticollis of infancy. Eur J Paediatr Neurol. 2014; 18 (3): 430-433.
    • (2014) Eur J Paediatr Neurol , vol.18 , Issue.3 , pp. 430-433
    • Vila-Pueyo, M.1    Gene, G.G.2    Flotats-Bastardes, M.3
  • 9
    • 0014494513 scopus 로고
    • Paroxysmal torticollis in infancy: A possible form of labyrinthitis
    • Snyder CH,. Paroxysmal torticollis in infancy: a possible form of labyrinthitis. Am J Dis Child. 1969; 117 (4): 458-460.
    • (1969) Am J Dis Child , vol.117 , Issue.4 , pp. 458-460
    • Snyder, C.H.1
  • 10
    • 0034709399 scopus 로고    scopus 로고
    • Benign paroxysmal torticollis of infancy
    • Drigo P, Carli G, Laverda AM,. Benign paroxysmal torticollis of infancy. Brain Dev. 2000; 22 (3): 169-172.
    • (2000) Brain Dev , vol.22 , Issue.3 , pp. 169-172
    • Drigo, P.1    Carli, G.2    Laverda, A.M.3
  • 11
    • 33745621579 scopus 로고    scopus 로고
    • Genetic biomarkers for migraine
    • De Vries B, Haan J, Frants RR, et al. Genetic biomarkers for migraine. Headache. 2006; 46 (7): 1059-1068.
    • (2006) Headache , vol.46 , Issue.7 , pp. 1059-1068
    • De Vries, B.1    Haan, J.2    Frants, R.R.3
  • 12
    • 84926251224 scopus 로고    scopus 로고
    • Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A
    • Blumkin L, Leshinsky-Silver E, Michelson M, et al. Paroxysmal tonic upward gaze as a presentation of de-novo mutations in CACNA1A. Eur J Paediatr Neurol. 2015; 19 (3): 292-297.
    • (2015) Eur J Paediatr Neurol , vol.19 , Issue.3 , pp. 292-297
    • Blumkin, L.1    Leshinsky-Silver, E.2    Michelson, M.3
  • 13
    • 84918530852 scopus 로고    scopus 로고
    • Migraine pathophysiology: Lessons from mouse models and human genetics
    • Ferrari MD Klever RR, Terwindt GM, et al. Migraine pathophysiology: lessons from mouse models and human genetics. Lancet Neurol. 2015; 14 (1): 65-80.
    • (2015) Lancet Neurol , vol.14 , Issue.1 , pp. 65-80
    • Ferrari, M.D.1    Klever, R.R.2    Terwindt, G.M.3
  • 14
    • 2942525883 scopus 로고    scopus 로고
    • No mutations in CACNA1A and ATP1A2 in probands with common types of migraine
    • Jen JC, Kim GW, Dudding KA, Baloh RW,. No mutations in CACNA1A and ATP1A2 in probands with common types of migraine. Arch Neurol. 2004; 61 (6): 926-928.
    • (2004) Arch Neurol , vol.61 , Issue.6 , pp. 926-928
    • Jen, J.C.1    Kim, G.W.2    Dudding, K.A.3    Baloh, R.W.4
  • 15
    • 84877672164 scopus 로고    scopus 로고
    • PRRT2 mutations and paroxysmal disorders
    • Meneret A, Gaudebout C, Riant F, et al. PRRT2 mutations and paroxysmal disorders. Eur J Neurol. 2013; 20 (6): 872-878.
    • (2013) Eur J Neurol , vol.20 , Issue.6 , pp. 872-878
    • Meneret, A.1    Gaudebout, C.2    Riant, F.3
  • 16
    • 84866367603 scopus 로고    scopus 로고
    • Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine
    • Dale RC, Gardiner A, Antony J, Houlden H,. Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine. Dev Med Child Neurol. 2012; 54 (10): 958-960.
    • (2012) Dev Med Child Neurol , vol.54 , Issue.10 , pp. 958-960
    • Dale, R.C.1    Gardiner, A.2    Antony, J.3    Houlden, H.4
  • 17
    • 84951046758 scopus 로고    scopus 로고
    • The evolving spectrum of PRRT2-associated paroxysmal diseases
    • Ebrahimi-Fakhari D, Saffari A, Westenberger A, Klein C,. The evolving spectrum of PRRT2-associated paroxysmal diseases. Brain. 2015; 138: 3476-3495.
    • (2015) Brain , vol.138 , pp. 3476-3495
    • Ebrahimi-Fakhari, D.1    Saffari, A.2    Westenberger, A.3    Klein, C.4
  • 18
    • 0032975258 scopus 로고    scopus 로고
    • High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2
    • Denier C, Ducros A, Vahedi K, et al. High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. Neurology. 1999; 52 (9): 1816-1821.
    • (1999) Neurology , vol.52 , Issue.9 , pp. 1816-1821
    • Denier, C.1    Ducros, A.2    Vahedi, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.