메뉴 건너뛰기




Volumn 54, Issue 9, 2012, Pages 849-854

Long-term outcome in pyridoxine-dependent epilepsy

Author keywords

[No Author keywords available]

Indexed keywords

ALDEHYDE; ALPHA AMINOADIPIC SEMIALDEHYDE; ANTICONVULSIVE AGENT; CARBAMAZEPINE; PHENOBARBITAL; PYRIDOXINE; UNCLASSIFIED DRUG; VALPROIC ACID;

EID: 84865171162     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2012.04347.x     Document Type: Article
Times cited : (86)

References (26)
  • 1
    • 0032732556 scopus 로고    scopus 로고
    • Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK
    • Baxter P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch Dis Child 1999; 81: 431-3.
    • (1999) Arch Dis Child , vol.81 , pp. 431-433
    • Baxter, P.1
  • 2
    • 28444454497 scopus 로고    scopus 로고
    • Epidemiology of pyridoxine dependent seizures in the Netherlands
    • Been JV, Bok LA, Andriessen P, Renier WO. Epidemiology of pyridoxine dependent seizures in the Netherlands. Arch Dis Child 2005; 90: 1293-6.
    • (2005) Arch Dis Child , vol.90 , pp. 1293-1296
    • Been, J.V.1    Bok, L.A.2    Andriessen, P.3    Renier, W.O.4
  • 3
    • 34547662436 scopus 로고    scopus 로고
    • Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic levels
    • Bok LA, Struys E, Willemsen MA, Been JV, Jakobs C. Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic levels. Arch Dis Child 2007; 92: 687-9.
    • (2007) Arch Dis Child , vol.92 , pp. 687-689
    • Bok, L.A.1    Struys, E.2    Willemsen, M.A.3    Been, J.V.4    Jakobs, C.5
  • 4
    • 33644821320 scopus 로고    scopus 로고
    • Mutations in antiquitin in individuals with pyridoxine-dependent seizures
    • Mills PB, Struys E, Jakobs C, et al. 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
  • 5
    • 0025730349 scopus 로고
    • Pyridoxine-dependent seizures, clinical and therapeutic aspects
    • Haenggeli CA, Girardin E, Paunier L. Pyridoxine-dependent seizures, clinical and therapeutic aspects. Eur J Pediatr 1991; 150: 452-5.
    • (1991) Eur J Pediatr , vol.150 , pp. 452-455
    • Haenggeli, C.A.1    Girardin, E.2    Paunier, L.3
  • 7
    • 36148958973 scopus 로고    scopus 로고
    • An intriguing 'silent' mutation and a founder effect in antiquitin (ALDH7A1)
    • Salomons GS, Bok LA, Struys EA, et al. An intriguing 'silent' mutation and a founder effect in antiquitin (ALDH7A1). Ann Neurol 2007; 62: 414-8.
    • (2007) Ann Neurol , vol.62 , pp. 414-418
    • Salomons, G.S.1    Bok, L.A.2    Struys, E.A.3
  • 11
    • 67049172564 scopus 로고    scopus 로고
    • L-2-hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients
    • Steenweg ME, Salomons GS, Yapici Z, et al. L-2-hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients. Radiology 2009; 251: 856-65.
    • (2009) Radiology , vol.251 , pp. 856-865
    • Steenweg, M.E.1    Salomons, G.S.2    Yapici, Z.3
  • 12
    • 78650010093 scopus 로고    scopus 로고
    • The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy
    • Bok LA, Maurits NM, Willemsen MA, et al. The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy. Epilepsia 2010; 51: 2406-11.
    • (2010) Epilepsia , vol.51 , pp. 2406-2411
    • Bok, L.A.1    Maurits, N.M.2    Willemsen, M.A.3
  • 13
    • 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 Jr. 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 Pediatr 2009; 168: 697-704.
    • (2009) Eur J Pediatr , vol.168 , pp. 697-704
    • Basura, G.J.1    Hagland, S.P.2    Wiltse, A.M.3    Gospe Jr., S.M.4
  • 14
    • 77957552434 scopus 로고    scopus 로고
    • The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1
    • Scharer G, Brocker C, Vasiliou V, et al. The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. J Inherit Metab Dis 2010; 33: 571-81.
    • (2010) J Inherit Metab Dis , vol.33 , pp. 571-581
    • Scharer, G.1    Brocker, C.2    Vasiliou, V.3
  • 15
    • 0029850279 scopus 로고    scopus 로고
    • Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient
    • Baxter P, Griffiths P, Kelly T, Gardner-Medwin D. Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. Dev Med Child Neurol 1996; 38: 998-1006.
    • (1996) Dev Med Child Neurol , vol.38 , pp. 998-1006
    • Baxter, P.1    Griffiths, P.2    Kelly, T.3    Gardner-Medwin, D.4
  • 16
    • 23644448216 scopus 로고    scopus 로고
    • Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy
    • Plecko B, Hikel C, Korenke GC, et al. Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy. Neuropediatrics 2005; 36: 200-5.
    • (2005) Neuropediatrics , vol.36 , pp. 200-205
    • Plecko, B.1    Hikel, C.2    Korenke, G.C.3
  • 17
    • 29644442446 scopus 로고    scopus 로고
    • Prevalence of pyridoxine dependent seizures in south Indian children with early onset intractable epilepsy: a hospital based prospective study
    • Ramachandrannair R, Parameswaran M. Prevalence of pyridoxine dependent seizures in south Indian children with early onset intractable epilepsy: a hospital based prospective study. Eur J Paediatr Neurol 2005; 9: 409-13.
    • (2005) Eur J Paediatr Neurol , vol.9 , pp. 409-413
    • Ramachandrannair, R.1    Parameswaran, M.2
  • 18
    • 77954377790 scopus 로고    scopus 로고
    • Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
    • Mills PB, Footitt EJ, Mills KA, et al. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain 2010; 133: 2148-59.
    • (2010) Brain , vol.133 , pp. 2148-2159
    • Mills, P.B.1    Footitt, E.J.2    Mills, K.A.3
  • 19
    • 0345404150 scopus 로고    scopus 로고
    • Longitudinal MRI findings in pyridoxine-dependent seizures
    • Gospe SM Jr, Hecht ST. Longitudinal MRI findings in pyridoxine-dependent seizures. Neurology 1998; 51: 74-8.
    • (1998) Neurology , vol.51 , pp. 74-78
    • Gospe Jr., S.M.1    Hecht, S.T.2
  • 20
    • 34447257158 scopus 로고    scopus 로고
    • Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis
    • Kanno J, Kure S, Narisawa A, et al. Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis. Mol Genet Metab 2007; 91: 384-9.
    • (2007) Mol Genet Metab , vol.91 , pp. 384-389
    • Kanno, J.1    Kure, S.2    Narisawa, A.3
  • 21
  • 22
    • 0000743130 scopus 로고
    • Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine
    • Hunt AD Jr, Stokes J Jr, 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 Jr., A.D.1    Stokes Jr., J.2    McCrory, W.W.3    Stroud, H.H.4
  • 23
    • 63249118726 scopus 로고    scopus 로고
    • Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness
    • Kluger G, Blank R, Paul K, et al. Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness. Neuropediatrics 2008; 39: 276-9.
    • (2008) Neuropediatrics , vol.39 , pp. 276-279
    • Kluger, G.1    Blank, R.2    Paul, K.3
  • 25
    • 33947574490 scopus 로고    scopus 로고
    • Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime
    • Rankin PM, Harrison S, Chong WK, Boyd S, Aylett SE. Pyridoxine-dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime. Dev Med Child Neurol 2007; 49: 300-5.
    • (2007) Dev Med Child Neurol , vol.49 , pp. 300-305
    • Rankin, P.M.1    Harrison, S.2    Chong, W.K.3    Boyd, S.4    Aylett, S.E.5
  • 26
    • 63849243167 scopus 로고    scopus 로고
    • Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures
    • Striano P, Battaglia S, Giordano L, et al. Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures. Epilepsia 2009; 50: 933-6.
    • (2009) Epilepsia , vol.50 , pp. 933-936
    • Striano, P.1    Battaglia, S.2    Giordano, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.