메뉴 건너뛰기




Volumn 111, Issue , 2013, Pages 533-541

Epilepsy in inborn errors of metabolism

Author keywords

[No Author keywords available]

Indexed keywords


EID: 84876800819     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-52891-9.00056-7     Document Type: Chapter
Times cited : (12)

References (64)
  • 1
    • 0026505257 scopus 로고
    • Epileptic encephalopathies of early childhood
    • Aicardi J. Epileptic encephalopathies of early childhood. Curr Opin Neurol Neurosurg 1992, 5:344-348.
    • (1992) Curr Opin Neurol Neurosurg , vol.5 , pp. 344-348
    • Aicardi, J.1
  • 2
    • 0035103186 scopus 로고    scopus 로고
    • Carnitine protects mitochondria and removes toxic acyls from xenobiotics
    • Arrigoni-Martelli E., Caso V. Carnitine protects mitochondria and removes toxic acyls from xenobiotics. Drugs Exp Clin Res 2001, 27:27-49.
    • (2001) Drugs Exp Clin Res , vol.27 , pp. 27-49
    • Arrigoni-Martelli, E.1    Caso, V.2
  • 3
    • 33645324426 scopus 로고    scopus 로고
    • Epilepsy in Menkes disease: analysis of clinical stages
    • Bahi-Buisson N., Kaminska A., Nabbout R., et al. Epilepsy in Menkes disease: analysis of clinical stages. Epilepsia 2006, 47:380-386.
    • (2006) Epilepsia , vol.47 , pp. 380-386
    • Bahi-Buisson, N.1    Kaminska, A.2    Nabbout, R.3
  • 4
    • 50649103055 scopus 로고    scopus 로고
    • Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase
    • Bahi-Buisson N., El Sabbagh S., Soufflet C., et al. Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase. Seizure 2008, 17:658-664.
    • (2008) Seizure , vol.17 , pp. 658-664
    • Bahi-Buisson, N.1    El Sabbagh, S.2    Soufflet, C.3
  • 5
    • 0030725762 scopus 로고    scopus 로고
    • Recurrent seizures in metachromatic leukodystrophy
    • Balslev T., Cortez M.A., Blaser S.I., et al. Recurrent seizures in metachromatic leukodystrophy. Pediatr Neurol 1997, 17:150-154.
    • (1997) Pediatr Neurol , vol.17 , pp. 150-154
    • Balslev, T.1    Cortez, M.A.2    Blaser, S.I.3
  • 6
    • 0032231595 scopus 로고    scopus 로고
    • Imaging patterns of neonatal hypoglycemia
    • Barkovich A.J., Ali F.A., Rowley H.A., et al. Imaging patterns of neonatal hypoglycemia. AJNR 1998, 19:523-528.
    • (1998) AJNR , vol.19 , pp. 523-528
    • Barkovich, A.J.1    Ali, F.A.2    Rowley, H.A.3
  • 7
    • 75349092696 scopus 로고    scopus 로고
    • Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis
    • Barnerias C., Saudubray J.M., Touati G., et al. Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. Dev Med Child Neurol 2010, 52:e1-e9.
    • (2010) Dev Med Child Neurol , vol.52
    • Barnerias, C.1    Saudubray, J.M.2    Touati, G.3
  • 8
    • 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, 81:431-433.
    • (1999) Arch Dis Child , vol.81 , pp. 431-433
    • Baxter, P.1
  • 9
    • 35748954370 scopus 로고    scopus 로고
    • GABA: a pioneer transmitter that excites immature neurons and generates primitive oscillations
    • Ben-Ari Y., Gaiarsa J.L., Tyzio R., et al. GABA: a pioneer transmitter that excites immature neurons and generates primitive oscillations. Physiol Rev 2007, 87:1215-1284.
    • (2007) Physiol Rev , vol.87 , pp. 1215-1284
    • Ben-Ari, Y.1    Gaiarsa, J.L.2    Tyzio, R.3
  • 10
    • 0033836404 scopus 로고    scopus 로고
    • Seizures as a presenting feature of late onset metachromatic leukodystrophy
    • Bostantjopoulou S., Katsarou Z., Michelakaki H., et al. Seizures as a presenting feature of late onset metachromatic leukodystrophy. Acta Neurol Scand 2000, 102:192-195.
    • (2000) Acta Neurol Scand , vol.102 , pp. 192-195
    • Bostantjopoulou, S.1    Katsarou, Z.2    Michelakaki, H.3
  • 11
    • 0022510479 scopus 로고
    • Progressive neuronal degeneration of childhood with liver disease (" Alpers' disease" ): characteristic neurophysiological features
    • Boyd S.G., Harden A., Egger J., et al. Progressive neuronal degeneration of childhood with liver disease (" Alpers' disease" ): characteristic neurophysiological features. Neuropediatrics 1986, 17:75-80.
    • (1986) Neuropediatrics , vol.17 , pp. 75-80
    • Boyd, S.G.1    Harden, A.2    Egger, J.3
  • 12
    • 75649116471 scopus 로고    scopus 로고
    • Management of West syndrome in a patient with methylmalonic aciduria
    • Campeau P.M., Valayannopoulos V., Touati G., et al. Management of West syndrome in a patient with methylmalonic aciduria. J Child Neurol 2010, 25:94-97.
    • (2010) J Child Neurol , vol.25 , pp. 94-97
    • Campeau, P.M.1    Valayannopoulos, V.2    Touati, G.3
  • 13
    • 0038244051 scopus 로고    scopus 로고
    • Neonatal epileptic encephalopathy
    • Clayton P.T., Surtees R.A., DeVile C., et al. Neonatal epileptic encephalopathy. Lancet 2003, 361:1614.
    • (2003) Lancet , vol.361 , pp. 1614
    • Clayton, P.T.1    Surtees, R.A.2    DeVile, C.3
  • 14
    • 0022447220 scopus 로고
    • Distinction between the myoclonus-related potential and the epileptic spike in epilepsia partialis continua
    • Chauvel P., Liegeois-Chauvel C., Marquis P., et al. Distinction between the myoclonus-related potential and the epileptic spike in epilepsia partialis continua. Electroencephalogr Clin Neurophysiol 1986, 64:304-307.
    • (1986) Electroencephalogr Clin Neurophysiol , vol.64 , pp. 304-307
    • Chauvel, P.1    Liegeois-Chauvel, C.2    Marquis, P.3
  • 15
    • 0037360130 scopus 로고    scopus 로고
    • Unilateral cortical necrosis following status epilepticus with hypoglycemia
    • Christiaens F.J., Mewasingh L.D., Christophe C., et al. Unilateral cortical necrosis following status epilepticus with hypoglycemia. Brain Dev 2003, 25:107-112.
    • (2003) Brain Dev , vol.25 , pp. 107-112
    • Christiaens, F.J.1    Mewasingh, L.D.2    Christophe, C.3
  • 16
    • 0026528769 scopus 로고
    • Infantile spasms: II. Lenticular nuclei and brain stem activation on positron emission tomography
    • Chugani H.T., Shewmon D.A., Sankar R., et al. Infantile spasms: II. Lenticular nuclei and brain stem activation on positron emission tomography. Ann Neurol 1992, 31:212-219.
    • (1992) Ann Neurol , vol.31 , pp. 212-219
    • Chugani, H.T.1    Shewmon, D.A.2    Sankar, R.3
  • 17
    • 0024447828 scopus 로고
    • Biotin-responsive infantile encephalopathy: EEG-polygraphic study of a case
    • Colamaria V., Burlina A.B., Gaburro D., et al. Biotin-responsive infantile encephalopathy: EEG-polygraphic study of a case. Epilepsia 1989, 30:573-578.
    • (1989) Epilepsia , vol.30 , pp. 573-578
    • Colamaria, V.1    Burlina, A.B.2    Gaburro, D.3
  • 18
    • 0028152298 scopus 로고
    • Biotinidase deficiency: early neurological presentation
    • Collins J.E., Nicholson N.S., Dalton N., et al. Biotinidase deficiency: early neurological presentation. Dev Med Child Neurol 1994, 36:268-270.
    • (1994) Dev Med Child Neurol , vol.36 , pp. 268-270
    • Collins, J.E.1    Nicholson, N.S.2    Dalton, N.3
  • 20
    • 0020504095 scopus 로고
    • Early myoclonic epileptic encephalopathy (E.M.E.E.)
    • Dalla Bernardina B., Dulac O., Fejerman N., et al. Early myoclonic epileptic encephalopathy (E.M.E.E.). Eur J Pediatr 1983, 140:248-252.
    • (1983) Eur J Pediatr , vol.140 , pp. 248-252
    • Dalla Bernardina, B.1    Dulac, O.2    Fejerman, N.3
  • 22
    • 0032904554 scopus 로고    scopus 로고
    • Continuing education in neurometabolic disorders-serine deficiency disorders
    • de Koning T.J., Poll-The B.T., Jaeken J. Continuing education in neurometabolic disorders-serine deficiency disorders. Neuropediatrics 1999, 30:1-4.
    • (1999) Neuropediatrics , vol.30 , pp. 1-4
    • de Koning, T.J.1    Poll-The, B.T.2    Jaeken, J.3
  • 23
    • 10944270723 scopus 로고    scopus 로고
    • Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency
    • de Koning T.J., Klomp L.W., van Oppen A.C., et al. Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency. Lancet 2004, 364:2221-2222.
    • (2004) Lancet , vol.364 , pp. 2221-2222
    • de Koning, T.J.1    Klomp, L.W.2    van Oppen, A.C.3
  • 24
    • 0027310580 scopus 로고
    • Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis
    • de Meirleir L., Lissens W., Denis R., et al. Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis. Pediatr Neurol 1993, 9:216-220.
    • (1993) Pediatr Neurol , vol.9 , pp. 216-220
    • de Meirleir, L.1    Lissens, W.2    Denis, R.3
  • 25
    • 34948897998 scopus 로고    scopus 로고
    • Valproate-induced hyperammonaemic encephalopathy: review of 14 cases in the psychiatric setting
    • Dealberto M.J. Valproate-induced hyperammonaemic encephalopathy: review of 14 cases in the psychiatric setting. Int Clin Psychopharmacol 2007, 22:330-337.
    • (2007) Int Clin Psychopharmacol , vol.22 , pp. 330-337
    • Dealberto, M.J.1
  • 26
    • 1842558824 scopus 로고    scopus 로고
    • Glutamate transporters prevent the generation of seizures in the developing rat neocortex
    • Demarque M., Villeneuve N., Manent J.B., et al. Glutamate transporters prevent the generation of seizures in the developing rat neocortex. J Neurosci 2004, 24:3289-3294.
    • (2004) J Neurosci , vol.24 , pp. 3289-3294
    • Demarque, M.1    Villeneuve, N.2    Manent, J.B.3
  • 27
    • 0242467998 scopus 로고    scopus 로고
    • Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation
    • Desguerre I., Pinton F., Nabbout R., et al. Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation. Neuropediatrics 2003, 34:265-269.
    • (2003) Neuropediatrics , vol.34 , pp. 265-269
    • Desguerre, I.1    Pinton, F.2    Nabbout, R.3
  • 28
    • 0036372802 scopus 로고    scopus 로고
    • Clinical features and genetics of myoclonic epilepsy with ragged red fibers
    • DiMauro S., Hirano M., Kaufmann P., et al. Clinical features and genetics of myoclonic epilepsy with ragged red fibers. Adv Neurol 2002, 89:217-229.
    • (2002) Adv Neurol , vol.89 , pp. 217-229
    • DiMauro, S.1    Hirano, M.2    Kaufmann, P.3
  • 29
    • 0031981622 scopus 로고    scopus 로고
    • Myoclonus and epilepsy in childhood: 1996 Royaumont meeting
    • Dulac O., Plouin P., Shewmon A. Myoclonus and epilepsy in childhood: 1996 Royaumont meeting. Epilepsy Res 1998, 30:91-106.
    • (1998) Epilepsy Res , vol.30 , pp. 91-106
    • Dulac, O.1    Plouin, P.2    Shewmon, A.3
  • 30
    • 77954477989 scopus 로고    scopus 로고
    • Epileptic phenotypes in children with respiratory chain disorders
    • El Sabbagh S., Lebre A.S., Bahi-Buisson N., et al. Epileptic phenotypes in children with respiratory chain disorders. Epilepsia 2010, 51:1225-1235.
    • (2010) Epilepsia , vol.51 , pp. 1225-1235
    • El Sabbagh, S.1    Lebre, A.S.2    Bahi-Buisson, N.3
  • 31
    • 0035805636 scopus 로고    scopus 로고
    • Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid: increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II
    • Farrant R.D., Walker V., Mills G.A., et al. Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid: increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II. J Biol Chem 2001, 276:15107-15116.
    • (2001) J Biol Chem , vol.276 , pp. 15107-15116
    • Farrant, R.D.1    Walker, V.2    Mills, G.A.3
  • 32
    • 20144388894 scopus 로고    scopus 로고
    • Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA
    • Ferrari G., Lamantea E., Donati A., et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 2005, 128:723-731.
    • (2005) Brain , vol.128 , pp. 723-731
    • Ferrari, G.1    Lamantea, E.2    Donati, A.3
  • 33
    • 65449119303 scopus 로고    scopus 로고
    • Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy
    • Gallagher R.C., Van Hove J.L., Scharer G., et al. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol 2009, 65:550-556.
    • (2009) Ann Neurol , vol.65 , pp. 550-556
    • Gallagher, R.C.1    Van Hove, J.L.2    Scharer, G.3
  • 34
    • 0030722925 scopus 로고    scopus 로고
    • Guanidinoacetate methyltransferase deficiency: new clinical features
    • Ganesan V., Johnson A., Connelly A., et al. Guanidinoacetate methyltransferase deficiency: new clinical features. Pediatr Neurol 1997, 17:155-157.
    • (1997) Pediatr Neurol , vol.17 , pp. 155-157
    • Ganesan, V.1    Johnson, A.2    Connelly, A.3
  • 35
    • 33745807399 scopus 로고    scopus 로고
    • Progressive Myoclonus Epilepsies
    • John Libbey & Company Ltd, London, Chapter 28, J. Roger, M. Bureau, C. Dravet (Eds.)
    • Genton P., Malafosse A., Moulard B., et al. Progressive Myoclonus Epilepsies. Epileptic syndromes in Infancy, Childhood, and adolescence 2005, 441-465. John Libbey & Company Ltd, London, Chapter 28. 4th edn. J. Roger, M. Bureau, C. Dravet (Eds.).
    • (2005) Epileptic syndromes in Infancy, Childhood, and adolescence , pp. 441-465
    • Genton, P.1    Malafosse, A.2    Moulard, B.3
  • 36
    • 0036013916 scopus 로고    scopus 로고
    • Hurler's syndrome, West's syndrome, and vitamin D-dependent rickets
    • Gudiño M.A., Campistol J., Chavez B., et al. Hurler's syndrome, West's syndrome, and vitamin D-dependent rickets. J Child Neurol 2002, 17:149-151.
    • (2002) J Child Neurol , vol.17 , pp. 149-151
    • Gudiño, M.A.1    Campistol, J.2    Chavez, B.3
  • 37
    • 0029042032 scopus 로고
    • Folinic acid responsive seizures: a new syndrome?
    • Hyland K., Buist N.R., Powell B.R., et al. Folinic acid responsive seizures: a new syndrome?. J Inherit Metab Dis 1995, 18:177-181.
    • (1995) J Inherit Metab Dis , vol.18 , pp. 177-181
    • Hyland, K.1    Buist, N.R.2    Powell, B.R.3
  • 38
    • 0030035420 scopus 로고    scopus 로고
    • 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis
    • Jaeken J., Detheux M., Van Maldergem L., et al. 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. Arch Dis Child 1996, 74:542-545.
    • (1996) Arch Dis Child , vol.74 , pp. 542-545
    • Jaeken, J.1    Detheux, M.2    Van Maldergem, L.3
  • 39
    • 0023091647 scopus 로고
    • Glycine potentiates the NMDA response in cultured mouse brain neurons
    • Johnson J.W., Ascher P. Glycine potentiates the NMDA response in cultured mouse brain neurons. Nature 1987, 325:529-531.
    • (1987) Nature , vol.325 , pp. 529-531
    • Johnson, J.W.1    Ascher, P.2
  • 40
    • 70149105914 scopus 로고    scopus 로고
    • Accumulation of oxidative stress around the stroke-like lesions of MELAS patients
    • Katayama Y., Maeda K., Iizuka T., et al. Accumulation of oxidative stress around the stroke-like lesions of MELAS patients. Mitochondrion 2009, 9:306-313.
    • (2009) Mitochondrion , vol.9 , pp. 306-313
    • Katayama, Y.1    Maeda, K.2    Iizuka, T.3
  • 41
    • 55349117504 scopus 로고    scopus 로고
    • Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet
    • Klepper J. Glucose transporter deficiency syndrome (GLUT1DS) and the ketogenic diet. Epilepsia 2008, 49:46-49.
    • (2008) Epilepsia , vol.49 , pp. 46-49
    • Klepper, J.1
  • 42
    • 0027490334 scopus 로고
    • Impaired fatty acid oxidation in children on valproic acid and the effect of L-carnitine
    • Kossak B.D., Schmidt-Sommerfeld E., Schoeller D.A., et al. Impaired fatty acid oxidation in children on valproic acid and the effect of L-carnitine. Neurology 1993, 43:2362-2368.
    • (1993) Neurology , vol.43 , pp. 2362-2368
    • Kossak, B.D.1    Schmidt-Sommerfeld, E.2    Schoeller, D.A.3
  • 43
    • 0037651879 scopus 로고    scopus 로고
    • Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome
    • Leary L.D., Wang D., Nordli D.R., et al. Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome. Epilepsia 2003, 44:701-707.
    • (2003) Epilepsia , vol.44 , pp. 701-707
    • Leary, L.D.1    Wang, D.2    Nordli, D.R.3
  • 44
    • 43349098636 scopus 로고    scopus 로고
    • Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions
    • Lee Y.M., Kang H.C., Lee J.S., et al. Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions. Epilepsia 2008, 49:685-690.
    • (2008) Epilepsia , vol.49 , pp. 685-690
    • Lee, Y.M.1    Kang, H.C.2    Lee, J.S.3
  • 45
    • 33747075772 scopus 로고    scopus 로고
    • GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis
    • Mercimek-Mahmutoglu S., Stoeckler-Ipsiroglu S., Adami A., et al. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. Neurology 2006, 67:480-484.
    • (2006) Neurology , vol.67 , pp. 480-484
    • Mercimek-Mahmutoglu, S.1    Stoeckler-Ipsiroglu, S.2    Adami, A.3
  • 46
    • 0034486871 scopus 로고    scopus 로고
    • Clinical and EEG video-polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone
    • Mikaeloff Y., Plouin P., Dhondt J.L., et al. Clinical and EEG video-polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. Efficiency of hydrocortisone. Epileptic Disord 2000, 2:213-217.
    • (2000) Epileptic Disord , vol.2 , pp. 213-217
    • Mikaeloff, Y.1    Plouin, P.2    Dhondt, J.L.3
  • 47
    • 33846262515 scopus 로고    scopus 로고
    • Inhibition of glutamate transporters results in a " suppression-burst" pattern and partial seizures in the newborn rat
    • Milh M., Becq H., Villeneuve N., et al. Inhibition of glutamate transporters results in a " suppression-burst" pattern and partial seizures in the newborn rat. Epilepsia 2007, 48:169-174.
    • (2007) Epilepsia , vol.48 , pp. 169-174
    • Milh, M.1    Becq, H.2    Villeneuve, N.3
  • 48
    • 20244367772 scopus 로고    scopus 로고
    • Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase
    • Mills P.B., Surtees R.A., Champion M.P., et al. Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. Hum Mol Genet 2005, 14:1077-1086.
    • (2005) Hum Mol Genet , vol.14 , pp. 1077-1086
    • Mills, P.B.1    Surtees, R.A.2    Champion, M.P.3
  • 49
    • 19944434207 scopus 로고    scopus 로고
    • Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy
    • Molinari F., Raas-Rothschild A., Rio M., et al. Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy. Am J Hum Genet 2005, 76:334-339.
    • (2005) Am J Hum Genet , vol.76 , pp. 334-339
    • Molinari, F.1    Raas-Rothschild, A.2    Rio, M.3
  • 50
    • 41149134880 scopus 로고    scopus 로고
    • CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
    • Mollet J., Delahodde A., Serre V., et al. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet 2008, 82:623-630.
    • (2008) Am J Hum Genet , vol.82 , pp. 623-630
    • Mollet, J.1    Delahodde, A.2    Serre, V.3
  • 51
  • 52
    • 31944445736 scopus 로고    scopus 로고
    • Folinic acid-responsive seizures initially responsive to pyridoxine
    • Nicolai J., van Kranen-Mastenbroek V.H., Wevers R.A., et al. Folinic acid-responsive seizures initially responsive to pyridoxine. Pediatr Neurol 2006, 34:164-167.
    • (2006) Pediatr Neurol , vol.34 , pp. 164-167
    • Nicolai, J.1    van Kranen-Mastenbroek, V.H.2    Wevers, R.A.3
  • 53
    • 27644453469 scopus 로고    scopus 로고
    • POLG mutations in Alpers syndrome
    • Nguyen K.V., Ostergaard E., Ravn S.H., et al. POLG mutations in Alpers syndrome. Neurology 2005, 65:1493-1495.
    • (2005) Neurology , vol.65 , pp. 1493-1495
    • Nguyen, K.V.1    Ostergaard, E.2    Ravn, S.H.3
  • 55
    • 0027177418 scopus 로고
    • Characterization of seizures associated with biotinidase deficiency
    • Salbert B.A., Pellock J.M., Wolf B. Characterization of seizures associated with biotinidase deficiency. Neurology 1993, 43:1351-1355.
    • (1993) Neurology , vol.43 , pp. 1351-1355
    • Salbert, B.A.1    Pellock, J.M.2    Wolf, B.3
  • 56
    • 0034870385 scopus 로고    scopus 로고
    • Ictal and nonictal paroxysmal events in infantile neuroaxonal dystrophy: polygraphic study of a case
    • Santucci M., Ambrosetto G., Scaduto M.C., et al. Ictal and nonictal paroxysmal events in infantile neuroaxonal dystrophy: polygraphic study of a case. Epilepsia 2001, 42:1074-1077.
    • (2001) Epilepsia , vol.42 , pp. 1074-1077
    • Santucci, M.1    Ambrosetto, G.2    Scaduto, M.C.3
  • 58
    • 0027465669 scopus 로고
    • Focal status epilepticus and epilepsia partialis continua in adults and children
    • Schomer D.L. Focal status epilepticus and epilepsia partialis continua in adults and children. Epilepsia 1993, 34:S29-S36.
    • (1993) Epilepsia , vol.34
    • Schomer, D.L.1
  • 60
    • 33646881502 scopus 로고    scopus 로고
    • Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid
    • Thakur V., Rupar C.A., Ramsay D.A., et al. Fatal cerebral edema from late-onset ornithine transcarbamylase deficiency in a juvenile male patient receiving valproic acid. Pediatr Crit Care Med 2006, 7:273-276.
    • (2006) Pediatr Crit Care Med , vol.7 , pp. 273-276
    • Thakur, V.1    Rupar, C.A.2    Ramsay, D.A.3
  • 61
    • 34548482529 scopus 로고    scopus 로고
    • The earliest MR imaging and proton MR spectroscopy abnormalities in adult-onset Krabbe disease
    • Wang C., Melberg A., Weis J., et al. The earliest MR imaging and proton MR spectroscopy abnormalities in adult-onset Krabbe disease. Acta Neurol Scand 2007, 116:268-272.
    • (2007) Acta Neurol Scand , vol.116 , pp. 268-272
    • Wang, C.1    Melberg, A.2    Weis, J.3
  • 62
    • 66849089743 scopus 로고    scopus 로고
    • Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features
    • Wolf N.I., Rahman S., Schmitt B., et al. Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features. Epilepsia 2009, 50:1596-1607.
    • (2009) Epilepsia , vol.50 , pp. 1596-1607
    • Wolf, N.I.1    Rahman, S.2    Schmitt, B.3
  • 63
    • 33846143862 scopus 로고    scopus 로고
    • Cerebral childhood and adolescent X-linked adrenoleukodystrophy: clinical presentation, neurophysiological, neuroimaging and biochemical investigations
    • Zgorzalewicz-Stachowiak M., Stradomska T.J., Bartkowiak Z., et al. Cerebral childhood and adolescent X-linked adrenoleukodystrophy: clinical presentation, neurophysiological, neuroimaging and biochemical investigations. Folia Neuropathol 2006, 44:319-326.
    • (2006) Folia Neuropathol , vol.44 , pp. 319-326
    • Zgorzalewicz-Stachowiak, M.1    Stradomska, T.J.2    Bartkowiak, Z.3
  • 64
    • 0034783408 scopus 로고    scopus 로고
    • Clinical analysis of West syndrome associated with phenylketonuria
    • Zhongshu Z., Weiming Y., Yukio F., et al. Clinical analysis of West syndrome associated with phenylketonuria. Brain Dev 2001, 23:552-557.
    • (2001) Brain Dev , vol.23 , pp. 552-557
    • Zhongshu, Z.1    Weiming, Y.2    Yukio, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.