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Volumn 52, Issue 7, 2010, Pages 602-603

Pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency: Unique clinical symptoms and non-specific EEG characteristics

Author keywords

[No Author keywords available]

Indexed keywords

CATECHOLAMINE; GLYCINE; INDOLEAMINE; PYRIDOXAL 5 PHOSPHATE; PYRIDOXAMINE PHOSPHATE OXIDASE; PYRIDOXINE; THREONINE; VANILLIC ACID;

EID: 77954646191     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2010.03668.x     Document Type: Note
Times cited : (11)

References (7)
  • 1
    • 67349248477 scopus 로고    scopus 로고
    • Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry
    • Basura GJ, Hagland SP, Wiltse AM, Gospe SM. Clinical features and the management of pyridoxine-dependent and pyridoxine-responsive seizures: review of 63 North American cases submitted to a patient registry. Eur J Pediat 2009, 168:697-704.
    • (2009) Eur J Pediat , vol.168 , pp. 697-704
    • Basura, G.J.1    Hagland, S.P.2    Wiltse, A.M.3    Gospe, S.M.4
  • 2
    • 33846454698 scopus 로고    scopus 로고
    • Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy
    • Hoffmann GF, Schmitt B, Windfuhr M. Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis 2007, 30:96-9.
    • (2007) J Inherit Metab Dis , vol.30 , pp. 96-99
    • Hoffmann, G.F.1    Schmitt, B.2    Windfuhr, M.3
  • 3
    • 0000743130 scopus 로고
    • Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine
    • Hunt AD, Stokes J, McCrory WW, Stroud HH. Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine. Pediatrics 1954, 13:140-5.
    • (1954) Pediatrics , vol.13 , pp. 140-145
    • Hunt, A.D.1    Stokes, J.2    McCrory, W.W.3    Stroud, H.H.4
  • 4
    • 20244367772 scopus 로고    scopus 로고
    • Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase
    • Mills PB, Surtees RAH, Champion MP. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5′-phosphate oxidase. Hum Mol Genet 2005, 14:1077-86.
    • (2005) Hum Mol Genet , vol.14 , pp. 1077-1086
    • Mills, P.B.1    Surtees, R.A.H.2    Champion, M.P.3
  • 5
    • 33644821320 scopus 로고    scopus 로고
    • Mutations in antiquitin in individuals with pyridoxine-dependent seizures
    • Mills PB, Struys E, Jakobs C. Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med 2006, 12:307-9.
    • (2006) Nat Med , vol.12 , pp. 307-309
    • Mills, P.B.1    Struys, E.2    Jakobs, C.3
  • 6
    • 77954645270 scopus 로고    scopus 로고
    • Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency
    • DOI: (Published online 29 March 2010)
    • Schmitt B, Baumgartner M, Mills PB. Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. Dev Med Child Neurol http://dx.doi.org/10.1111/j.1469-8749.2010.03660.x, DOI: (Published online 29 March 2010)
    • Dev Med Child Neurol
    • Schmitt, B.1    Baumgartner, M.2    Mills, P.B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.