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Volumn 13, Issue 7, 2014, Pages 727-739

Occasional seizures, epilepsy, and inborn errors of metabolism

Author keywords

[No Author keywords available]

Indexed keywords

ETIRACETAM; FOLINIC ACID; GLUTAMATE TRANSPORTER; GLYCINE AMIDINOTRANSFERASE; GUANIDINOACETATE METHYLTRANSFERASE; GUANIDINOACETIC ACID; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; PYRIDOXAL 5 PHOSPHATE; PYRIDOXINE; PYRROLINE 5 CARBOXYLATE DEHYDROGENASE; SULFITE OXIDASE; THIAMINE; TOLBUTAMIDE; VALPROIC ACID; VIGABATRIN;

EID: 84902463335     PISSN: 14744422     EISSN: 14744465     Source Type: Journal    
DOI: 10.1016/S1474-4422(14)70110-3     Document Type: Review
Times cited : (40)

References (124)
  • 1
    • 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
  • 2
  • 6
    • 77950338275 scopus 로고    scopus 로고
    • Current concepts in the pathogenesis of urea cycle disorders
    • Braissant O Current concepts in the pathogenesis of urea cycle disorders. Mol Genet Metab 2010, 100(suppl 1):S3-12.
    • (2010) Mol Genet Metab , vol.100 , Issue.SUPPL. 1
    • Braissant, O.1
  • 7
    • 84867230778 scopus 로고    scopus 로고
    • Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemia
    • Gataullina S, Dellatolas G, Perdry H, et al. Comorbidity and metabolic context are crucial factors determining neurological sequelae of hypoglycaemia. Dev Med Child Neurol 2012, 54:1012-1017.
    • (2012) Dev Med Child Neurol , vol.54 , pp. 1012-1017
    • Gataullina, S.1    Dellatolas, G.2    Perdry, H.3
  • 9
    • 79551644744 scopus 로고    scopus 로고
    • Hypoglycemia-occipital syndrome: a specific neurologic syndrome following neonatal hypoglycemia?
    • Karimzadeh P, Tabarestani S, Ghofrani M Hypoglycemia-occipital syndrome: a specific neurologic syndrome following neonatal hypoglycemia?. J Child Neurol 2011, 26:152-159.
    • (2011) J Child Neurol , vol.26 , pp. 152-159
    • Karimzadeh, P.1    Tabarestani, S.2    Ghofrani, M.3
  • 11
    • 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 RD, Walker V, Mills GA, Mellor JM, Langley GJ 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    Mellor, J.M.4    Langley, G.J.5
  • 12
    • 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
  • 13
    • 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
  • 16
    • 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
  • 17
    • 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, 12:307-309.
    • (2006) Nat Med , vol.12 , pp. 307-309
    • Mills, P.B.1    Struys, E.2    Jakobs, C.3
  • 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, 133:2148-2159.
    • (2010) Brain , vol.133 , pp. 2148-2159
    • Mills, P.B.1    Footitt, E.J.2    Mills, K.A.3
  • 19
    • 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
  • 20
    • 0023091647 scopus 로고
    • Glycine potentiates the NMDA response in cultured mouse brain neurons
    • Johnson JW, 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
  • 21
    • 33748704078 scopus 로고    scopus 로고
    • Expressions of N-methyl-D-aspartate receptors NR2A and NR2B subunit proteins in normal and sulfite-oxidase deficient rat's hippocampus: effect of exogenous sulfite ingestion
    • Oztürk OH, Küçükatay V, Yönden Z, Aǧar A, Baǧci H, Delibaş N Expressions of N-methyl-D-aspartate receptors NR2A and NR2B subunit proteins in normal and sulfite-oxidase deficient rat's hippocampus: effect of exogenous sulfite ingestion. Arch Toxicol 2006, 80:671-679.
    • (2006) Arch Toxicol , vol.80 , pp. 671-679
    • Oztürk, O.H.1    Küçükatay, V.2    Yönden, Z.3    Aǧar, A.4    Baǧci, H.5    Delibaş, N.6
  • 22
    • 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
  • 23
    • 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, Ben-Ari Y, Aniksztejn L 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    Ben-Ari, Y.4    Aniksztejn, L.5
  • 24
    • 33845964751 scopus 로고    scopus 로고
    • Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene
    • Plecko B, Paul K, Paschke E, et al. Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene. Hum Mutat 2007, 28:19-26.
    • (2007) Hum Mutat , vol.28 , pp. 19-26
    • Plecko, B.1    Paul, K.2    Paschke, E.3
  • 25
    • 80052599284 scopus 로고    scopus 로고
    • Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up
    • Stockler S, Plecko B, Gospe SM, et al. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab 2011, 104:48-60.
    • (2011) Mol Genet Metab , vol.104 , pp. 48-60
    • Stockler, S.1    Plecko, B.2    Gospe, S.M.3
  • 27
    • 84870493681 scopus 로고    scopus 로고
    • Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency
    • Struys EA, Nota B, Bakkali A, Al Shahwan S, Salomons GS, Tabarki B Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. Pediatrics 2012, 130:e1716-e1719.
    • (2012) Pediatrics , vol.130
    • Struys, E.A.1    Nota, B.2    Bakkali, A.3    Al Shahwan, S.4    Salomons, G.S.5    Tabarki, B.6
  • 28
    • 33845641364 scopus 로고    scopus 로고
    • Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families
    • Mouchegh K, Zikánová M, Hoffmann GF, et al. Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families. J Pediatr 2007, 150:57-61.e2.
    • (2007) J Pediatr , vol.150
    • Mouchegh, K.1    Zikánová, M.2    Hoffmann, G.F.3
  • 29
    • 75149165175 scopus 로고    scopus 로고
    • Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency-MRI, clinical, biochemical and neuropathological findings of Polish patients
    • Mierzewska H, Schmidt-Sidor B, Jurkiewicz E, Bogdańska A, Kuśmierska K, Stepień T Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency-MRI, clinical, biochemical and neuropathological findings of Polish patients. Folia Neuropathol 2009, 47:314-320.
    • (2009) Folia Neuropathol , vol.47 , pp. 314-320
    • Mierzewska, H.1    Schmidt-Sidor, B.2    Jurkiewicz, E.3    Bogdańska, A.4    Kuśmierska, K.5    Stepień, T.6
  • 30
    • 79851503576 scopus 로고    scopus 로고
    • Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency
    • Banka S, Blom HJ, Walter J, et al. Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. Am J Hum Genet 2011, 88:216-225.
    • (2011) Am J Hum Genet , vol.88 , pp. 216-225
    • Banka, S.1    Blom, H.J.2    Walter, J.3
  • 31
    • 0021962790 scopus 로고
    • Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants
    • Goutières F, Aicardi J Atypical presentations of pyridoxine-dependent seizures: a treatable cause of intractable epilepsy in infants. Ann Neurol 1985, 17:117-120.
    • (1985) Ann Neurol , vol.17 , pp. 117-120
    • Goutières, F.1    Aicardi, J.2
  • 32
    • 84873411672 scopus 로고    scopus 로고
    • Inborn errors of creatine metabolism and epilepsy
    • Leuzzi V, Mastrangelo M, Battini R, Cioni G Inborn errors of creatine metabolism and epilepsy. Epilepsia 2013, 54:217-227.
    • (2013) Epilepsia , vol.54 , pp. 217-227
    • Leuzzi, V.1    Mastrangelo, M.2    Battini, R.3    Cioni, G.4
  • 33
    • 84883192433 scopus 로고    scopus 로고
    • Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
    • van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, et al. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet 2013, 50:463-472.
    • (2013) J Med Genet , vol.50 , pp. 463-472
    • van de Kamp, J.M.1    Betsalel, O.T.2    Mercimek-Mahmutoglu, S.3
  • 34
    • 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
  • 35
    • 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
  • 36
    • 45949102428 scopus 로고    scopus 로고
    • Unusual magnetic resonance imaging features in Menkes disease
    • Barnerias C, Boddaert N, Guiraud P, et al. Unusual magnetic resonance imaging features in Menkes disease. Brain Dev 2008, 30:489-492.
    • (2008) Brain Dev , vol.30 , pp. 489-492
    • Barnerias, C.1    Boddaert, N.2    Guiraud, P.3
  • 37
    • 84878588671 scopus 로고    scopus 로고
    • MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement
    • Sofou K, Steneryd K, Wiklund L-M, Tulinius M, Darin N MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement. Mitochondrion 2013, 13:364-371.
    • (2013) Mitochondrion , vol.13 , pp. 364-371
    • Sofou, K.1    Steneryd, K.2    Wiklund, L.-M.3    Tulinius, M.4    Darin, N.5
  • 38
    • 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
  • 39
    • 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
  • 40
    • 34548700630 scopus 로고    scopus 로고
    • Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2
    • Bahi-Buisson N, Eisermann M, Nivot S, et al. Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2. J Child Neurol 2007, 22:1147-1150.
    • (2007) J Child Neurol , vol.22 , pp. 1147-1150
    • Bahi-Buisson, N.1    Eisermann, M.2    Nivot, S.3
  • 41
    • 34748869665 scopus 로고    scopus 로고
    • A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain
    • Shimomura K, Hörster F, de Wet H, et al. A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. Neurology 2007, 69:1342-1349.
    • (2007) Neurology , vol.69 , pp. 1342-1349
    • Shimomura, K.1    Hörster, F.2    de Wet, H.3
  • 42
    • 0026528769 scopus 로고
    • Infantile spasms: II. Lenticular nuclei and brain stem activation on positron emission tomography
    • Chugani HT, Shewmon DA, Sankar R, Chen BC, Phelps ME 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    Chen, B.C.4    Phelps, M.E.5
  • 43
    • 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 JL, Ponsot G, Dulac O 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    Ponsot, G.4    Dulac, O.5
  • 44
    • 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
  • 45
    • 43349098636 scopus 로고    scopus 로고
    • Mitochondrial respiratory chain defects: underlying etiology in various epileptic conditions
    • Lee YM, Kang HC, Lee JS, 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
  • 46
    • 0033834892 scopus 로고    scopus 로고
    • 3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome
    • Pineda M, Vilaseca MA, Artuch R, et al. 3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome. Dev Med Child Neurol 2000, 42:629-633.
    • (2000) Dev Med Child Neurol , vol.42 , pp. 629-633
    • Pineda, M.1    Vilaseca, M.A.2    Artuch, R.3
  • 47
    • 16544375951 scopus 로고    scopus 로고
    • Myoclonic status in nonprogressive encephalopathies
    • Dalla Bernardina B, Fontana E, Darra F Myoclonic status in nonprogressive encephalopathies. Adv Neurol 2005, 95:59-70.
    • (2005) Adv Neurol , vol.95 , pp. 59-70
    • Dalla Bernardina, B.1    Fontana, E.2    Darra, F.3
  • 48
    • 0027177418 scopus 로고
    • Characterization of seizures associated with biotinidase deficiency
    • Salbert BA, Pellock JM, 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
  • 49
    • 0024447828 scopus 로고
    • Biotin-responsive infantile encephalopathy: EEG-polygraphic study of a case
    • Colamaria V, Burlina AB, 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
  • 50
    • 17344367164 scopus 로고    scopus 로고
    • GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier
    • Seidner G, Alvarez MG, Yeh JI, et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 1998, 18:188-191.
    • (1998) Nat Genet , vol.18 , pp. 188-191
    • Seidner, G.1    Alvarez, M.G.2    Yeh, J.I.3
  • 51
    • 77950286198 scopus 로고    scopus 로고
    • Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
    • Leen WG, Klepper J, Verbeek MM, et al. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder. Brain 2010, 133:655-670.
    • (2010) Brain , vol.133 , pp. 655-670
    • Leen, W.G.1    Klepper, J.2    Verbeek, M.M.3
  • 52
    • 0037651879 scopus 로고    scopus 로고
    • Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome
    • Leary LD, Wang D, Nordli DR, Engelstad K, De Vivo DC 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    Engelstad, K.4    De Vivo, D.C.5
  • 54
    • 68049136149 scopus 로고    scopus 로고
    • AGC1 deficiency associated with global cerebral hypomyelination
    • Wibom R, Lasorsa FM, Töhönen V, et al. AGC1 deficiency associated with global cerebral hypomyelination. N Engl J Med 2009, 361:489-495.
    • (2009) N Engl J Med , vol.361 , pp. 489-495
    • Wibom, R.1    Lasorsa, F.M.2    Töhönen, V.3
  • 55
    • 70449673243 scopus 로고    scopus 로고
    • AGC1 deficiency and cerebral hypomyelination
    • Wolf NI, van der Knaap MS AGC1 deficiency and cerebral hypomyelination. N Engl J Med 2009, 361:1997-1998.
    • (2009) N Engl J Med , vol.361 , pp. 1997-1998
    • Wolf, N.I.1    van der Knaap, M.S.2
  • 56
    • 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
  • 57
    • 73749085933 scopus 로고    scopus 로고
    • Guanidinoacetate methyltransferase deficiency (GAMT)
    • Gordon N Guanidinoacetate methyltransferase deficiency (GAMT). Brain Dev 2010, 32:79-81.
    • (2010) Brain Dev , vol.32 , pp. 79-81
    • Gordon, N.1
  • 58
    • 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
  • 59
    • 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
  • 60
    • 0032748870 scopus 로고    scopus 로고
    • GLUT1-deficiency: barbiturates potentiate haploinsufficiency in vitro
    • Klepper J, Fischbarg J, Vera JC, Wang D, De Vivo DC GLUT1-deficiency: barbiturates potentiate haploinsufficiency in vitro. Pediatr Res 1999, 46:677-683.
    • (1999) Pediatr Res , vol.46 , pp. 677-683
    • Klepper, J.1    Fischbarg, J.2    Vera, J.C.3    Wang, D.4    De Vivo, D.C.5
  • 61
    • 84858120198 scopus 로고    scopus 로고
    • GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy
    • the EPICURE Consortium
    • Striano P, Weber YG, Toliat MR, et al. GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy. Neurology 2012, 78:557-562. the EPICURE Consortium.
    • (2012) Neurology , vol.78 , pp. 557-562
    • Striano, P.1    Weber, Y.G.2    Toliat, M.R.3
  • 62
    • 84858143942 scopus 로고    scopus 로고
    • GLUT1 deficiency: a glut of epilepsy phenotypes
    • Scheffer IE GLUT1 deficiency: a glut of epilepsy phenotypes. Neurology 2012, 78:524-525.
    • (2012) Neurology , vol.78 , pp. 524-525
    • Scheffer, I.E.1
  • 63
    • 80052474105 scopus 로고    scopus 로고
    • Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism
    • Pearl PL, Shukla L, Theodore WH, Jakobs C, Michael Gibson K Epilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism. Brain Dev 2011, 33:796-805.
    • (2011) Brain Dev , vol.33 , pp. 796-805
    • Pearl, P.L.1    Shukla, L.2    Theodore, W.H.3    Jakobs, C.4    Michael Gibson, K.5
  • 64
    • 84863193433 scopus 로고    scopus 로고
    • Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency
    • Grapp M, Just IA, Linnankivi T, et al. Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency. Brain 2012, 135:2022-2031.
    • (2012) Brain , vol.135 , pp. 2022-2031
    • Grapp, M.1    Just, I.A.2    Linnankivi, T.3
  • 65
    • 84857676339 scopus 로고    scopus 로고
    • Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses
    • Kousi M, Lehesjoki A-E, Mole SE Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat 2012, 33:42-63.
    • (2012) Hum Mutat , vol.33 , pp. 42-63
    • Kousi, M.1    Lehesjoki, A.-E.2    Mole, S.E.3
  • 68
    • 71149083126 scopus 로고    scopus 로고
    • Gaucher disease patient with myoclonus epilepsy and a novel mutation
    • Tajima A, Ohashi T, Hamano S, Higurashi N, Ida H Gaucher disease patient with myoclonus epilepsy and a novel mutation. Pediatr Neurol 2010, 42:65-68.
    • (2010) Pediatr Neurol , vol.42 , pp. 65-68
    • Tajima, A.1    Ohashi, T.2    Hamano, S.3    Higurashi, N.4    Ida, H.5
  • 69
    • 33750303104 scopus 로고    scopus 로고
    • Rhythmic cortical myoclonus in Niemann-Pick disease type C
    • Canafoglia L, Bugiani M, Uziel G, et al. Rhythmic cortical myoclonus in Niemann-Pick disease type C. Mov Disord 2006, 21:1453-1456.
    • (2006) Mov Disord , vol.21 , pp. 1453-1456
    • Canafoglia, L.1    Bugiani, M.2    Uziel, G.3
  • 71
    • 20544449737 scopus 로고    scopus 로고
    • Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3
    • Zeng W-Q, Al-Yamani E, Acierno JS, et al. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet 2005, 77:16-26.
    • (2005) Am J Hum Genet , vol.77 , pp. 16-26
    • Zeng, W.-Q.1    Al-Yamani, E.2    Acierno, J.S.3
  • 72
    • 84874828464 scopus 로고    scopus 로고
    • Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome
    • Gerards M, Kamps R, van Oevelen J, et al. Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. Brain 2013, 136:882-890.
    • (2013) Brain , vol.136 , pp. 882-890
    • Gerards, M.1    Kamps, R.2    van Oevelen, J.3
  • 73
    • 84877259205 scopus 로고    scopus 로고
    • Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy
    • Kevelam SH, Bugiani M, Salomons GS, et al. Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. Brain 2013, 136:1534-1543.
    • (2013) Brain , vol.136 , pp. 1534-1543
    • Kevelam, S.H.1    Bugiani, M.2    Salomons, G.S.3
  • 74
    • 74949104831 scopus 로고    scopus 로고
    • Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations
    • Debs R, Depienne C, Rastetter A, et al. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol 2010, 67:126-130.
    • (2010) Arch Neurol , vol.67 , pp. 126-130
    • Debs, R.1    Depienne, C.2    Rastetter, A.3
  • 75
    • 84866288818 scopus 로고    scopus 로고
    • Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency
    • Serrano M, Rebollo M, Depienne C, et al. Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. Mov Disord 2012, 27:1295-1298.
    • (2012) Mov Disord , vol.27 , pp. 1295-1298
    • Serrano, M.1    Rebollo, M.2    Depienne, C.3
  • 76
    • 66849089743 scopus 로고    scopus 로고
    • Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features
    • Wolf NI, 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
  • 78
    • 0022510479 scopus 로고
    • Progressive neuronal degeneration of childhood with liver disease ("Alpers' disease"): characteristic neurophysiological features
    • Boyd SG, Harden A, Egger J, Pampiglione G 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    Pampiglione, G.4
  • 79
    • 20144388894 scopus 로고    scopus 로고
    • Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA
    • Ferrari G, Lamantea E, Donati A, et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA. Brain 2005, 128:723-731.
    • (2005) Brain , vol.128 , pp. 723-731
    • Ferrari, G.1    Lamantea, E.2    Donati, A.3
  • 80
    • 27644453469 scopus 로고    scopus 로고
    • POLG mutations in Alpers syndrome
    • Nguyen KV, Østergaard E, Ravn SH, et al. POLG mutations in Alpers syndrome. Neurology 2005, 65:1493-1495.
    • (2005) Neurology , vol.65 , pp. 1493-1495
    • Nguyen, K.V.1    Østergaard, E.2    Ravn, S.H.3
  • 81
    • 0033667891 scopus 로고    scopus 로고
    • Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism
    • Zschocke J, Ruiter JP, Brand J, et al. Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. Pediatr Res 2000, 48:852-855.
    • (2000) Pediatr Res , vol.48 , pp. 852-855
    • Zschocke, J.1    Ruiter, J.P.2    Brand, J.3
  • 82
    • 0037730098 scopus 로고    scopus 로고
    • 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene
    • Ofman R, Ruiter JPN, Feenstra M, et al. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. Am J Hum Genet 2003, 72:1300-1307.
    • (2003) Am J Hum Genet , vol.72 , pp. 1300-1307
    • Ofman, R.1    Ruiter, J.P.N.2    Feenstra, M.3
  • 83
    • 80053589958 scopus 로고    scopus 로고
    • Mitochondrial function and pathology in status epilepticus
    • Bindoff LA Mitochondrial function and pathology in status epilepticus. Epilepsia 2011, 52(suppl 8):6-7.
    • (2011) Epilepsia , vol.52 , Issue.SUPPL. 8 , pp. 6-7
    • Bindoff, L.A.1
  • 84
    • 0242494492 scopus 로고    scopus 로고
    • Slowly progressive spread of the stroke-like lesions in MELAS
    • Iizuka T, Sakai F, Kan S, Suzuki N Slowly progressive spread of the stroke-like lesions in MELAS. Neurology 2003, 61:1238-1244.
    • (2003) Neurology , vol.61 , pp. 1238-1244
    • Iizuka, T.1    Sakai, F.2    Kan, S.3    Suzuki, N.4
  • 85
    • 34547665492 scopus 로고    scopus 로고
    • Treatable neonatal epilepsy
    • Surtees R, Wolf N Treatable neonatal epilepsy. Arch Dis Child 2007, 92:659-661.
    • (2007) Arch Dis Child , vol.92 , pp. 659-661
    • Surtees, R.1    Wolf, N.2
  • 86
    • 81355149824 scopus 로고    scopus 로고
    • Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity?
    • Hartmann H, Fingerhut M, Jakobs C, Plecko B Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity?. Dev Med Child Neurol 2011, 53:1150-1153.
    • (2011) Dev Med Child Neurol , vol.53 , pp. 1150-1153
    • Hartmann, H.1    Fingerhut, M.2    Jakobs, C.3    Plecko, B.4
  • 87
    • 84894502818 scopus 로고    scopus 로고
    • Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures
    • Belachew D, Kazmerski T, Libman I, et al. Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures. JIMD Rep 2013, 11:17-24.
    • (2013) JIMD Rep , vol.11 , pp. 17-24
    • Belachew, D.1    Kazmerski, T.2    Libman, I.3
  • 88
    • 84863985546 scopus 로고    scopus 로고
    • Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation
    • Krawitz PM, Murakami Y, Hecht J, et al. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet 2012, 91:146-151.
    • (2012) Am J Hum Genet , vol.91 , pp. 146-151
    • Krawitz, P.M.1    Murakami, Y.2    Hecht, J.3
  • 89
    • 33846454698 scopus 로고    scopus 로고
    • Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy
    • Hoffmann GF, Schmitt B, Windfuhr M, et al. Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis 2007, 30:96-99.
    • (2007) J Inherit Metab Dis , vol.30 , pp. 96-99
    • Hoffmann, G.F.1    Schmitt, B.2    Windfuhr, M.3
  • 90
    • 84901932015 scopus 로고    scopus 로고
    • Pyridoxine responsiveness in novel mutations of the PNPO gene
    • Plecko B, Paul K, Mills P, et al. Pyridoxine responsiveness in novel mutations of the PNPO gene. Neurology 2014, 82:1425-1433.
    • (2014) Neurology , vol.82 , pp. 1425-1433
    • Plecko, B.1    Paul, K.2    Mills, P.3
  • 91
    • 84899807917 scopus 로고    scopus 로고
    • Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
    • Mills PB, Camuzeaux SS, Footitt EJ, et al. Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain 2014, 137:1350-1360.
    • (2014) Brain , vol.137 , pp. 1350-1360
    • Mills, P.B.1    Camuzeaux, S.S.2    Footitt, E.J.3
  • 93
    • 0029042032 scopus 로고
    • Folinic acid responsive seizures: a new syndrome?
    • Hyland K, Buist NR, Powell BR, 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
  • 94
    • 65449119303 scopus 로고    scopus 로고
    • Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy
    • Gallagher RC, Van Hove JLK, 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.K.2    Scharer, G.3
  • 95
    • 69449106758 scopus 로고    scopus 로고
    • Folate receptor α defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism
    • Steinfeld R, Grapp M, Kraetzner R, et al. Folate receptor α defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. Am J Hum Genet 2009, 85:354-363.
    • (2009) Am J Hum Genet , vol.85 , pp. 354-363
    • Steinfeld, R.1    Grapp, M.2    Kraetzner, R.3
  • 96
    • 84873679672 scopus 로고    scopus 로고
    • Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings
    • Tabarki B, Al-Shafi S, Al-Shahwan S, et al. Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. Neurology 2013, 80:261-267.
    • (2013) Neurology , vol.80 , pp. 261-267
    • Tabarki, B.1    Al-Shafi, S.2    Al-Shahwan, S.3
  • 98
    • 84856414931 scopus 로고    scopus 로고
    • Pharmacokinetics of high-dose oral thiamine hydrochloride in healthy subjects
    • Smithline HA, Donnino M, Greenblatt DJ Pharmacokinetics of high-dose oral thiamine hydrochloride in healthy subjects. BMC Clin Pharmacol 2012, 12:4.
    • (2012) BMC Clin Pharmacol , vol.12 , pp. 4
    • Smithline, H.A.1    Donnino, M.2    Greenblatt, D.J.3
  • 99
    • 0029009425 scopus 로고
    • The pyruvate dehydrogenase complex: nutrient control and the pathogenesis of insulin resistance
    • Sugden MC, Orfali KA, Holness MJ The pyruvate dehydrogenase complex: nutrient control and the pathogenesis of insulin resistance. J Nutr 1995, 125(suppl):1746S-1752S.
    • (1995) J Nutr , vol.125 , Issue.SUPPL.
    • Sugden, M.C.1    Orfali, K.A.2    Holness, M.J.3
  • 100
    • 84893686324 scopus 로고    scopus 로고
    • Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1)
    • Steller J, Gargus JJ, Gibbs LH, Hasso AN, Kimonis VE Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1). Neuropediatrics 2014, 45:56-60.
    • (2014) Neuropediatrics , vol.45 , pp. 56-60
    • Steller, J.1    Gargus, J.J.2    Gibbs, L.H.3    Hasso, A.N.4    Kimonis, V.E.5
  • 101
    • 33846212708 scopus 로고    scopus 로고
    • Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects
    • Kang H-C, Lee Y-M, Kim HD, Lee JS, Slama A Safe and effective use of the ketogenic diet in children with epilepsy and mitochondrial respiratory chain complex defects. Epilepsia 2007, 48:82-88.
    • (2007) Epilepsia , vol.48 , pp. 82-88
    • Kang, H.-C.1    Lee, Y.-M.2    Kim, H.D.3    Lee, J.S.4    Slama, A.5
  • 102
    • 78649267958 scopus 로고    scopus 로고
    • Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES)
    • Nabbout R, Mazzuca M, Hubert P, et al. Efficacy of ketogenic diet in severe refractory status epilepticus initiating fever induced refractory epileptic encephalopathy in school age children (FIRES). Epilepsia 2010, 51:2033-2037.
    • (2010) Epilepsia , vol.51 , pp. 2033-2037
    • Nabbout, R.1    Mazzuca, M.2    Hubert, P.3
  • 103
    • 84858700111 scopus 로고    scopus 로고
    • Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation
    • El-Hattab AW, Hsu JW, Emrick LT, et al. Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. Mol Genet Metab 2012, 105:607-614.
    • (2012) Mol Genet Metab , vol.105 , pp. 607-614
    • El-Hattab, A.W.1    Hsu, J.W.2    Emrick, L.T.3
  • 104
    • 0037309446 scopus 로고    scopus 로고
    • Lack of creatine in muscle and brain in an adult with GAMT deficiency
    • Schulze A, Bachert P, Schlemmer H, et al. Lack of creatine in muscle and brain in an adult with GAMT deficiency. Ann Neurol 2003, 53:248-251.
    • (2003) Ann Neurol , vol.53 , pp. 248-251
    • Schulze, A.1    Bachert, P.2    Schlemmer, H.3
  • 105
    • 78649335547 scopus 로고    scopus 로고
    • Treatment of intractable epilepsy in a female with SLC6A8 deficiency
    • Mercimek-Mahmutoglu S, Connolly MB, Poskitt KJ, et al. Treatment of intractable epilepsy in a female with SLC6A8 deficiency. Mol Genet Metab 2010, 101:409-412.
    • (2010) Mol Genet Metab , vol.101 , pp. 409-412
    • Mercimek-Mahmutoglu, S.1    Connolly, M.B.2    Poskitt, K.J.3
  • 108
    • 84867168772 scopus 로고    scopus 로고
    • Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP
    • Hitzert MM, Bos AF, Bergman KA, et al. Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP. Pediatrics 2012, 130:e1005-e1010.
    • (2012) Pediatrics , vol.130
    • Hitzert, M.M.1    Bos, A.F.2    Bergman, K.A.3
  • 109
    • 77951821454 scopus 로고    scopus 로고
    • Successful treatment of molybdenum cofactor deficiency type A with cPMP
    • Veldman A, Santamaria-Araujo JA, Sollazzo S, et al. Successful treatment of molybdenum cofactor deficiency type A with cPMP. Pediatrics 2010, 125:e1249-e1254.
    • (2010) Pediatrics , vol.125
    • Veldman, A.1    Santamaria-Araujo, J.A.2    Sollazzo, S.3
  • 110
    • 75649116471 scopus 로고    scopus 로고
    • Management of West syndrome in a patient with methylmalonic aciduria
    • Campeau PM, 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
  • 111
    • 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 CA, Ramsay DA, Singh R, Fraser DD 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    Singh, R.4    Fraser, D.D.5
  • 112
    • 34948897998 scopus 로고    scopus 로고
    • Valproate-induced hyperammonaemic encephalopathy: review of 14 cases in the psychiatric setting
    • Dealberto M-JCC 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.C.C.1
  • 113
    • 84878253758 scopus 로고    scopus 로고
    • Pharmacotherapy of focal epilepsy in children: a systematic review of approved agents
    • Arya R, Glauser TA Pharmacotherapy of focal epilepsy in children: a systematic review of approved agents. CNS Drugs 2013, 27:273-286.
    • (2013) CNS Drugs , vol.27 , pp. 273-286
    • Arya, R.1    Glauser, T.A.2
  • 114
    • 0024546064 scopus 로고
    • Valproic acid hepatic fatalities. II. US experience since 1984
    • Dreifuss FE, Langer DH, Moline KA, Maxwell JE Valproic acid hepatic fatalities. II. US experience since 1984. Neurology 1989, 39:201-207.
    • (1989) Neurology , vol.39 , pp. 201-207
    • Dreifuss, F.E.1    Langer, D.H.2    Moline, K.A.3    Maxwell, J.E.4
  • 115
    • 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
  • 117
    • 84976300872 scopus 로고    scopus 로고
    • Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency
    • Casarano M, Alessandrì MG, Salomons GS, et al. Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency. JIMD Rep 2012, 2:119-123.
    • (2012) JIMD Rep , vol.2 , pp. 119-123
    • Casarano, M.1    Alessandrì, M.G.2    Salomons, G.S.3
  • 118
    • 0038221058 scopus 로고    scopus 로고
    • Clinical spectrum of succinic semialdehyde dehydrogenase deficiency
    • Pearl PL, Gibson KM, Acosta MT, et al. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology 2003, 60:1413-1417.
    • (2003) Neurology , vol.60 , pp. 1413-1417
    • Pearl, P.L.1    Gibson, K.M.2    Acosta, M.T.3
  • 119
    • 79953783185 scopus 로고    scopus 로고
    • Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency
    • Anheim M, Maillart E, Vuillaumier-Barrot S, et al. Excellent response to acetazolamide in a case of paroxysmal dyskinesias due to GLUT1-deficiency. J Neurol 2011, 258:316-317.
    • (2011) J Neurol , vol.258 , pp. 316-317
    • Anheim, M.1    Maillart, E.2    Vuillaumier-Barrot, S.3
  • 120
    • 84879579488 scopus 로고    scopus 로고
    • Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis
    • Chen Y, Zhang Q, Shen T, et al. Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis. Invest Ophthalmol Vis Sci 2013, 54:4351-4357.
    • (2013) Invest Ophthalmol Vis Sci , vol.54 , pp. 4351-4357
    • Chen, Y.1    Zhang, Q.2    Shen, T.3
  • 121
    • 84871618131 scopus 로고    scopus 로고
    • Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP
    • Schuster B, Knies K, Stoepker C, et al. Whole exome sequencing reveals uncommon mutations in the recently identified Fanconi anemia gene SLX4/FANCP. Hum Mutat 2013, 34:93-96.
    • (2013) Hum Mutat , vol.34 , pp. 93-96
    • Schuster, B.1    Knies, K.2    Stoepker, C.3
  • 122
    • 84867897582 scopus 로고    scopus 로고
    • A novel homozygous mutation in SUCLA2 gene identified by exome sequencing
    • Lamperti C, Fang M, Invernizzi F, et al. A novel homozygous mutation in SUCLA2 gene identified by exome sequencing. Mol Genet Metab 2012, 107:403-408.
    • (2012) Mol Genet Metab , vol.107 , pp. 403-408
    • Lamperti, C.1    Fang, M.2    Invernizzi, F.3
  • 123
    • 80855156777 scopus 로고    scopus 로고
    • Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet
    • Valayannopoulos V, Bajolle F, Arnoux J-B, et al. Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet. Pediatr Res 2011, 70:638-641.
    • (2011) Pediatr Res , vol.70 , pp. 638-641
    • Valayannopoulos, V.1    Bajolle, F.2    Arnoux, J.-B.3
  • 124
    • 80054781460 scopus 로고    scopus 로고
    • Mechanism for noncompetitive inhibition by novel GluN2C/D N-methyl-D-aspartate receptor subunit-selective modulators
    • Acker TM, Yuan H, Hansen KB, et al. Mechanism for noncompetitive inhibition by novel GluN2C/D N-methyl-D-aspartate receptor subunit-selective modulators. Mol Pharmacol 2011, 80:782-795.
    • (2011) Mol Pharmacol , vol.80 , pp. 782-795
    • Acker, T.M.1    Yuan, H.2    Hansen, K.B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.