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Volumn 13, Issue 3, 2006, Pages 284-292

Neonatal epilepsy and inborn errors of metabolism;Épilepsies néonatales et erreurs innées du métabolisme

Author keywords

Convulsions; Epilepsy; Infant; Metabolic diseases; Myoclonic; Newborn

Indexed keywords

ADENYLOSUCCINATE LYASE; ANTICONVULSIVE AGENT; DIAZEPAM; FOLINIC ACID; GLUCOSE TRANSPORTER 1; PHENOBARBITAL; PYRIDOXAMINE PHOSPHATE OXIDASE; PYRIDOXINE; SERINE; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; VALPROIC ACID; VIGABATRIN; 4 AMINOBUTYRIC ACID; BIOTIN; VITAMIN B COMPLEX;

EID: 33644501104     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.arcped.2005.10.024     Document Type: Short Survey
Times cited : (28)

References (37)
  • 2
    • 1242341236 scopus 로고    scopus 로고
    • Pyridoxine-dependent seizures: A clinical and biochemical conundrum
    • P. Baxter Pyridoxine-dependent seizures: a clinical and biochemical conundrum Biochim. Biophys. Acta 1647 2003 36 41
    • (2003) Biochim. Biophys. Acta , vol.1647 , pp. 36-41
    • Baxter, P.1
  • 3
    • 20244367772 scopus 로고    scopus 로고
    • Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase
    • P.B. Mills, R.A. Surtees, and M.P. Champion Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase Hum. Mol. Genet. 14 2005 1077 1086
    • (2005) Hum. Mol. Genet. , vol.14 , pp. 1077-1086
    • Mills, P.B.1    Surtees, R.A.2    Champion, M.P.3
  • 4
    • 0000743130 scopus 로고
    • Pyridoxine dependency: Report of a case of intractable convulsions in an infant controlled by pyridoxine
    • A.D. Hunt Jr., J. Stokes Jr., and W.W. Mc Crory Pyridoxine dependency: report of a case of intractable convulsions in an infant controlled by pyridoxine Pediatrics 13 1954 140 145
    • (1954) Pediatrics , vol.13 , pp. 140-145
    • Hunt Jr., A.D.1    Stokes Jr., J.2    Mc Crory, W.W.3
  • 5
    • 0032732556 scopus 로고    scopus 로고
    • Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK
    • P. Baxter Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK Arch. Dis. Child. 81 1999 431 433
    • (1999) Arch. Dis. Child. , vol.81 , pp. 431-433
    • Baxter, P.1
  • 6
    • 0029850279 scopus 로고    scopus 로고
    • Pyridoxine-dependent seizures: Demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient
    • P. Baxter, P. Griffiths, and T. Kelly Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient Dev. Med. Child Neurol. 38 1996 998 1006
    • (1996) Dev. Med. Child Neurol. , vol.38 , pp. 998-1006
    • Baxter, P.1    Griffiths, P.2    Kelly, T.3
  • 8
    • 0038244051 scopus 로고    scopus 로고
    • Neonatal epileptic encephalopathy
    • P. Clayton, R.A. Surtees, and C. DeVile Neonatal epileptic encephalopathy Lancet 361 2003 1614
    • (2003) Lancet , vol.361 , pp. 1614
    • Clayton, P.1    Surtees, R.A.2    Devile, C.3
  • 9
    • 0036191050 scopus 로고    scopus 로고
    • Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine
    • M.F. Kuo, and H.S. Wang Pyridoxal phosphate-responsive epilepsy with resistance to pyridoxine Pediatr. Neurol. 26 2002 146 147
    • (2002) Pediatr. Neurol. , vol.26 , pp. 146-147
    • Kuo, M.F.1    Wang, H.S.2
  • 11
    • 0037000428 scopus 로고    scopus 로고
    • Value of lumbar puncture in the diagnosis of infantile epilepsy and folinic acid-responsive seizures
    • K. Hyland, and L.A. Arnold Value of lumbar puncture in the diagnosis of infantile epilepsy and folinic acid-responsive seizures J. Child Neurol. 17 Suppl. 3 2002 3S48 3S55 (discussion 3S56)
    • (2002) J. Child Neurol. , vol.17 , Issue.3 SUPPL.
    • Hyland, K.1    Arnold, L.A.2
  • 13
    • 0027177418 scopus 로고
    • Characterization of seizures associated with biotinidase deficiency
    • B.A. Salbert, J.M. Pellock, and B. Wolf Characterization of seizures associated with biotinidase deficiency Neurology 43 1993 1351 1355
    • (1993) Neurology , vol.43 , pp. 1351-1355
    • Salbert, B.A.1    Pellock, J.M.2    Wolf, B.3
  • 14
    • 17344367164 scopus 로고    scopus 로고
    • GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier
    • G. Seidner, M.G. Alvarez, and J.I. Yeh GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier Nat. Genet. 18 1998 188 191
    • (1998) Nat. Genet. , vol.18 , pp. 188-191
    • Seidner, G.1    Alvarez, M.G.2    Yeh, J.I.3
  • 15
    • 0034785807 scopus 로고    scopus 로고
    • Autosomal dominant glut-1 deficiency syndrome and familial epilepsy
    • K. Brockmann, D. Wang, and C.G. Korenke Autosomal dominant glut-1 deficiency syndrome and familial epilepsy Ann. Neurol. 50 2001 476 485
    • (2001) Ann. Neurol. , vol.50 , pp. 476-485
    • Brockmann, K.1    Wang, D.2    Korenke, C.G.3
  • 16
    • 0036340248 scopus 로고    scopus 로고
    • EEG features of glut-1 deficiency syndrome
    • A. Von Moers, K. Brockmann, and D. Wang EEG features of glut-1 deficiency syndrome Epilepsia 43 2002 941 945
    • (2002) Epilepsia , vol.43 , pp. 941-945
    • Von Moers, A.1    Brockmann, K.2    Wang, D.3
  • 17
    • 0032946375 scopus 로고    scopus 로고
    • Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter protein syndrome
    • J. Klepper, M. Garcia-Alvarez, and K.R. O'Driscoll Erythrocyte 3-O-methyl-D-glucose uptake assay for diagnosis of glucose-transporter protein syndrome J. Clin. Lab. Anal. 13 1999 116 121
    • (1999) J. Clin. Lab. Anal. , vol.13 , pp. 116-121
    • Klepper, J.1    Garcia-Alvarez, M.2    O'Driscoll, K.R.3
  • 18
    • 0242600762 scopus 로고    scopus 로고
    • Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro
    • J. Klepper, A. Florcken, and J. Fischbarg Effects of anticonvulsants on GLUT1-mediated glucose transport in GLUT1 deficiency syndrome in vitro Eur. J. Pediatr. 162 2003 84 89
    • (2003) Eur. J. Pediatr. , vol.162 , pp. 84-89
    • Klepper, J.1    Florcken, A.2    Fischbarg, J.3
  • 19
    • 0036998244 scopus 로고    scopus 로고
    • Genetic disorders of gamma-aminobutyric acid, glycine, and serine as causes of epilepsy
    • J. Jaeken Genetic disorders of gamma-aminobutyric acid, glycine, and serine as causes of epilepsy J. Child Neurol. 17 Suppl. 3 2002 3S84 3S87 (discussion 3S88)
    • (2002) J. Child Neurol. , vol.17 , Issue.3 SUPPL.
    • Jaeken, J.1
  • 21
    • 5444244399 scopus 로고    scopus 로고
    • Hypoglycemic brain damage
    • R.N. Auer Hypoglycemic brain damage Metab. Brain Dis. 19 2004 169 175
    • (2004) Metab. Brain Dis. , vol.19 , pp. 169-175
    • Auer, R.N.1
  • 22
    • 0026589951 scopus 로고
    • Unique EEG pattern (comb-like rhythm) in neonatal maple syrup urine disease
    • B.R. Tharp Unique EEG pattern (comb-like rhythm) in neonatal maple syrup urine disease Pediatr. Neurol. 8 1992 65 68
    • (1992) Pediatr. Neurol. , vol.8 , pp. 65-68
    • Tharp, B.R.1
  • 23
    • 2942592526 scopus 로고    scopus 로고
    • Glycine encephalopathy (nonketotic hyperglycinaemia): Review and update
    • D.A. Applegarth, and J.R. Toone Glycine encephalopathy (nonketotic hyperglycinaemia): review and update J. Inherit. Metab. Dis. 27 2004 417 422
    • (2004) J. Inherit. Metab. Dis. , vol.27 , pp. 417-422
    • Applegarth, D.A.1    Toone, J.R.2
  • 24
    • 0025285077 scopus 로고
    • Glycine is a coagonist at the NMDA receptor/channel complex
    • A.M. Thomson Glycine is a coagonist at the NMDA receptor/channel complex Prog. Neurobiol. 35 1990 53 74
    • (1990) Prog. Neurobiol. , vol.35 , pp. 53-74
    • Thomson, A.M.1
  • 25
    • 0031949102 scopus 로고    scopus 로고
    • Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia
    • A. Hamosh, J.F. Maher, and G.A. Bellus Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia J. Pediatr. 132 1998 709 713
    • (1998) J. Pediatr. , vol.132 , pp. 709-713
    • Hamosh, A.1    Maher, J.F.2    Bellus, G.A.3
  • 26
    • 0017373338 scopus 로고
    • Dipropylacetate (valproate) and glycine metabolism
    • J. Jaeken, L. Corbeel, and P. Casaer Dipropylacetate (valproate) and glycine metabolism Lancet 2 1977 617
    • (1977) Lancet , vol.2 , pp. 617
    • Jaeken, J.1    Corbeel, L.2    Casaer, P.3
  • 28
    • 0027267464 scopus 로고
    • Molybdenum-cofactor deficiency: An easily missed cause of neonatal convulsions
    • H.M. Slot, W.C. Overweg-Plandsoen, and H.D. Bakker Molybdenum-cofactor deficiency: an easily missed cause of neonatal convulsions Neuropediatrics 24 1993 139 142
    • (1993) Neuropediatrics , vol.24 , pp. 139-142
    • Slot, H.M.1    Overweg-Plandsoen, W.C.2    Bakker, H.D.3
  • 30
    • 18544369011 scopus 로고    scopus 로고
    • Screening for adenylosuccinate lyase deficiency: Clinical, biochemical and molecular findings in four patients
    • M. Castro, C. Perez-Cerda, and B. Merinero Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients Neuropediatrics 33 2002 186 189
    • (2002) Neuropediatrics , vol.33 , pp. 186-189
    • Castro, M.1    Perez-Cerda, C.2    Merinero, B.3
  • 31
    • 0030969652 scopus 로고    scopus 로고
    • Inborn errors of the purine nucleotide cycle: Adenylosuccinase deficiency
    • G. Van den Berghe, M.F. Vincent, and J. Jaeken Inborn errors of the purine nucleotide cycle: adenylosuccinase deficiency J. Inherit. Metab. Dis. 20 1997 193 202
    • (1997) J. Inherit. Metab. Dis. , vol.20 , pp. 193-202
    • Van Den Berghe, G.1    Vincent, M.F.2    Jaeken, J.3
  • 32
    • 0038221058 scopus 로고    scopus 로고
    • Clinical spectrum of succinic semialdehyde dehydrogenase deficiency
    • P.L. Pearl, K.M. Gibson, and M.T. Acosta Clinical spectrum of succinic semialdehyde dehydrogenase deficiency Neurology 60 2003 1413 1417
    • (2003) Neurology , vol.60 , pp. 1413-1417
    • Pearl, P.L.1    Gibson, K.M.2    Acosta, M.T.3
  • 33
    • 0041365747 scopus 로고    scopus 로고
    • Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency
    • A. Gropman Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency Ann. Neurol. 54 Suppl. 6 2003 S66 S72
    • (2003) Ann. Neurol. , vol.54 , Issue.6 SUPPL.
    • Gropman, A.1
  • 35
  • 36
    • 0141925704 scopus 로고    scopus 로고
    • Glycosylation defects: A new mechanism for muscular dystrophy?
    • P.K. Grewal, and J.E. Hewitt Glycosylation defects: a new mechanism for muscular dystrophy? Hum. Mol. Genet. 12 Spec No:2 2003 R259 R264
    • (2003) Hum. Mol. Genet. , vol.12 , Issue.2 SPEC. NO.
    • Grewal, P.K.1    Hewitt, J.E.2
  • 37
    • 0037000459 scopus 로고    scopus 로고
    • Metabolic evaluation of infantile epilepsy: Summary recommendations of the Amalfi Group
    • N.R. Buist, O. Dulac, and T. Bottiglieri Metabolic evaluation of infantile epilepsy: summary recommendations of the Amalfi Group J. Child Neurol. 17 Suppl. 3 2002 3S98 3S102
    • (2002) J. Child Neurol. , vol.17 , Issue.3 SUPPL.
    • Buist, N.R.1    Dulac, O.2    Bottiglieri, T.3


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