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Volumn 53, Issue 6, 2012, Pages

Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation

Author keywords

Coloboma; Early onset epileptic encephalopathy; Hypomyelination; SPTAN1; West syndrome

Indexed keywords

CLOBAZAM; ETIRACETAM; HYDROCORTISONE; PYRIDOXINE; SPECTRIN; SPECTRIN ALPHA 2; TOPIRAMATE; UNCLASSIFIED DRUG; VALPROIC ACID; VIGABATRIN;

EID: 84861816746     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/j.1528-1167.2012.03437.x     Document Type: Article
Times cited : (31)

References (12)
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    • Polyalanine expansion of ARX associated with cryptogenic West syndrome
    • Kato M, Das S, Petras K, Sawaishi Y, Dobyns WB,. (2003) Polyalanine expansion of ARX associated with cryptogenic West syndrome. Neurology 61: 267-276.
    • (2003) Neurology , vol.61 , pp. 267-276
    • Kato, M.1    Das, S.2    Petras, K.3    Sawaishi, Y.4    Dobyns, W.B.5
  • 7
    • 0038070132 scopus 로고    scopus 로고
    • Connecting the eye to the brain: The molecular basis of ganglion cell axon guidance
    • Oster SF, Sretavan DW,. (2003) Connecting the eye to the brain: the molecular basis of ganglion cell axon guidance. Br J Ophthalmol 87: 639-645.
    • (2003) Br J Ophthalmol , vol.87 , pp. 639-645
    • Oster, S.F.1    Sretavan, D.W.2
  • 10
    • 77955082451 scopus 로고    scopus 로고
    • ARX spectrum disorders: Making inroads into the molecular pathology
    • Shoubridge C, Fullston T, Gécz J,. (2010) ARX spectrum disorders: making inroads into the molecular pathology. Hum Mutat 31: 889-900.
    • (2010) Hum Mutat , vol.31 , pp. 889-900
    • Shoubridge, C.1    Fullston, T.2    Gécz, J.3
  • 12
    • 33947145646 scopus 로고    scopus 로고
    • Alpha-II-spectrin is essential for assembly of the nodes of Ranvier in myelinated axons
    • Voas MG, Lyons DA, Naylor SG, Arana N, Rasband MN, Talbot WS,. (2007) Alpha-II-spectrin is essential for assembly of the nodes of Ranvier in myelinated axons. Curr Biol 17: 562-568.
    • (2007) Curr Biol , vol.17 , pp. 562-568
    • Voas, M.G.1    Lyons, D.A.2    Naylor, S.G.3    Arana, N.4    Rasband, M.N.5    Talbot, W.S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.