메뉴 건너뛰기




Volumn 28, Issue 3, 2013, Pages 389-391

SCN1A mutation associated with intractable myoclonic epilepsy and migraine headache

Author keywords

Dravet syndrome; intractable epilepsy; phenotypic heterogeneity; SCN1A mutation

Indexed keywords

CLOBAZAM; LAMOTRIGINE; SODIUM CHANNEL NAV1.1; STIRIPENTOL; VALPROIC ACID;

EID: 84873669275     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812443309     Document Type: Article
Times cited : (15)

References (6)
  • 1
    • 65549094126 scopus 로고    scopus 로고
    • Clinical spectrum of SCN1A mutations
    • Gambardella A, Marini C. Clinical spectrum of SCN1A mutations. Epilepsia. 2009 ; 50 (suppl 5). S20 - S23
    • (2009) Epilepsia , vol.50 , Issue.SUPPL. 5
    • Gambardella, A.1    Marini, C.2
  • 2
    • 79957589237 scopus 로고    scopus 로고
    • Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
    • O'Roak BJ, Deriziotis P, Lee C, et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet. 2011 ; 43: 585-589
    • (2011) Nat Genet , vol.43 , pp. 585-589
    • O'Roak, B.J.1    Deriziotis, P.2    Lee, C.3
  • 3
    • 0035071143 scopus 로고    scopus 로고
    • A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus - And prevalence of variants in patients with epilepsy
    • DOI 10.1086/319524
    • Escayg A, Heils A, MacDonald BT, et al. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus - and prevalence of variants in patients with epilepsy. Am J Hum Genet. 2001 ; 68: 866-873 (Pubitemid 32289732)
    • (2001) American Journal of Human Genetics , vol.68 , Issue.4 , pp. 866-873
    • Escayg, A.1    Heils, A.2    Macdonald, B.T.3    Haug, K.4    Sander, T.5    Meisler, M.H.6
  • 4
    • 36048934254 scopus 로고    scopus 로고
    • Novel Mutation Confirms Seizure Locus SCN1A is Also Familial Hemiplegic Migraine Locus FHM3
    • DOI 10.1016/j.pediatrneurol.2007.06.016, PII S0887899407003323
    • Gargus JJ, Tournay A. Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3. Pediatr Neurol. 2007 ; 37: 407-410 (Pubitemid 350087632)
    • (2007) Pediatric Neurology , vol.37 , Issue.6 , pp. 407-410
    • Gargus, J.J.1    Tournay, A.2
  • 5
    • 79953268292 scopus 로고    scopus 로고
    • One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene
    • Yordanova I, Todorov T, Dimova P, et al. One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene. Neurosci Lett. 2011 ; 494: 180-183
    • (2011) Neurosci Lett , vol.494 , pp. 180-183
    • Yordanova, I.1    Todorov, T.2    Dimova, P.3
  • 6
    • 84873685424 scopus 로고    scopus 로고
    • Heterogeneous phenotypes of idiopathic occipital epilepsy, febrile convulsion and hemiplegic migraine occurring in a family with a SCN1A defect [Abstract]
    • Annesi G, Mumoli L, Labate A, et al. Heterogeneous phenotypes of idiopathic occipital epilepsy, febrile convulsion and hemiplegic migraine occurring in a family with a SCN1A defect [Abstract]. 12th International Congress of Human Genetics; 2011; October 12; 606W, 79.
    • (2011) 12th International Congress of Human Genetics , vol.606 W , pp. 79
    • Annesi, G.1    Mumoli, L.2    Labate, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.