
I. B. YOUSSEF-TURKI ET AL.
73
3.
doi:10.1007/s10545-006-0358-0
[2] N. Bahi-Buisson, K. Mention, P. L. Léger, et al., “Neona-
tal Epilepsy and Inborn Errors of Metabolism,” Archives
de Pédiatrie, Vol. 13, No. 3, 2006, pp. 284-292.
[3] D. C. De Vivo, “Inherited Metabolic Disorders and Sei-
zures in Infancy,” Journal of Child Neurology, Vol. 17,
2002, pp. 3S1-3S2.
[4] D. R. Jr. Nordli and D. C. De Vivo, “Classification of
Infantile Seizures: Implications for Identification and
Treatment of Inborn Errors of Metabolism,” Journal of
Child Neurology, Vol. 17, 2002, pp. 3S3-3S7.
[5] J. M. Pascual, J. Campistol and A. Gil-Nagel, “Epilepsy
in Inherited Metabolic Disorders,” Neurologist, Vol. 14,
2008, pp. S2-S14.
[6] P. L. Pearl, H. D. Bennett and Z. Khademian, “Seizures
and Metabolic Disease,” Current Neurology and Neuro-
science Reports, Vol. 5, No. 2, 2005, pp. 127-133.
[7] F. Sedel, I. Gourfinkel-An, O. Lyon-Caen, M. Baulac, J.
M. Saudubray and V. Navarro, “Epilepsy and Inborn Er-
rors of Metabolism in Adults: A Diagnostic Approach,”
Journal of Inherited Metabolic Disease, Vol. 30, No. 6,
2007, pp. 846-854. doi:10.1007/s10545-007-0723-7
[8] S. Stöckler-Ipsiroglu and B. Plecko, “Metabolic Epilepsies:
Approaches to a Diagnostic Challenge,” Canadian Jour-
nal of Neurological Sciences, Vol. 36, 2009, pp. S67-S72.
[9] F. Vigevano and A. Bartuli, “Infantile Epileptic Syn-
dromes and Metabolic Etiologies,” Journal of Child
Neurology, Vol. 17, 2002, pp. S9-S1
[10] N. I. Wolf, T. Bast and R. Surtees, “Epilepsy in Inborn
Errors of Metabolism,” Epileptic Di sorders, Vol. 7, No. 2,
2005, pp. 67-81.
[11] N. I. Wolf, A. García-Cazorla and G. F. Hoffmann, “Epi-
lepsy and Inborn Errors of Metabolism in Children,”
Journal of Inherited Metabolic Disease, Vol. 32, No. 5,
2009, pp. 609-617.
[12] D. A. Applegarth and J. R Toone, “Glycine Encepha-
Lopathy (Nonketotic Hyperglycinaemia): Review and
Update,” Journal of Inherited Metabolic Disease, Vol. 27,
No. 3, 2004, pp. 417-422.
[13] P. Baxter, P. Griffiths, T. Kelly, et al., “Pyridoxine-depen-
dent Seizures: Demographic, Clinical, MRI and Psycho-
metric Features, and Effect of Dose on Intelligence Quo-
tient,” Developmental Medicine & Child Neurology, Vol.
38, No. 11, 1996, pp. 998-1006.
[14] M. F. Kuo and H. S. Wang, “Pyridoxal Phosphate-res-
ponsive Epilepsy with Resistance to Pyridoxine,” Pedia-
tric Neurology, Vol. 26, No. 2, 2002, pp. 146-147.
doi:10.1016/S0887-8994(01)00357-5
[15] O. A. Torres, V. S. Miller, N. M. Buist, et al., “Folinic
Acid-responsive Neonatal Seizures,” Journal of Child
Neurology, Vol. 14, 1999, pp. 529-532.
doi:10.1177/088307389901400809
[16] J. E. Collins, N. S. Nicholson, N. Dalton, et al., “Biotini-
dase Deficiency: Early Neurological Presentation,” De-
velopmental Medicine & Child Neurology, Vol. 36, 1994,
pp. 268-270.
[17] B. A. Salbert, J. M. Pellock and B. Wolf, “Characteriza-
tion of Seizures Associated with Biotinidase Deficiency,”
Neurology, Vol. 43, No. 7, 1993, pp.1351-1355.
[18] T. J. De Koning and L. W. Klomp, “Serine-deficiency
Syndromes,” Current Opinion in Neurology, Vol. 17, No. 2,
2004, pp. 197-204. doi:10.1097/00019052-200404000-00019
[19] K. Brockmann, D. Wang, C. G. Korenke, et al., “Auto-
somal Dominant Glut-1 Deficiency Syndrome and
Familial Epilepsy,” Annals of Neurology, Vol. 50, 2001,
pp. 476-485. doi:10.1002/ana.1222
[20] J. Finsterer, “Central Nervous System Manifestations of
Mitochondrial Disorders,” Acta Neurologica Scandi-
navica, Vol. 114, 2006, pp. 217-238.
[21] A. B. Dublin, J. K. Hald and S. L. Wootton-Gorges,
“Isolated Sulfite Oxidase Deficiency: MR Imaging
Features,” American Journal of Neuroradiology, Vol. 23,
No. 3, 2002, pp. 484-485.
[22] G. Van den Berghe, M. F. Vincent and J. Jaeken, “Inborn
Errors of the Purine Nucleotide Cycle: Adenylosuccinase
Deficiency,” Journal of Inherited Metabolic Disease, Vol.
20, No. 2, 1997, pp.193-202. doi:10.1023/A:1005304722259
[23] P. L. Pearl, K. M. Gibson, M. T. Acosta, et al., “Clinical
Spectrum of Succinic Semialdehyde Dehydrogenase Defi-
ciency,” Neurology, Vol. 60, No. 9, 2003, pp.1413-1417.
[24] Y. Takahashi, Y. Suzuki, K. Kumazaki, et al., “Epilepsy
in Peroxisomal Diseases,” Epilepsia, Vol. 38, No. 2, 1997,
pp. 182-188. doi:10.1111/j.1528-1157.1997.tb01095.x
[25] T. Marquardt and J. Denecke, “Congenital Disorders of
Glycosylation: Review of Their Molecular Bases, Clinical
Presentations and Specific Therapies,” European Journal
of Pediatrics, Vol. 162, No. 6, 2003, pp. 359-379.
[26] A. Shahwan, M. Farrell and N. Delanty, “Progressive
Myoclonic Epilepsies: A Review of Genetic and Thera-
peutic Aspects,” The Lancet Neurology, Vol. 4, No. 4,
2005, pp. 239-248. doi:10.1016/S1474-4422(05)70043-0
[27] K. E. Wisniewski, N. Zhong and M. Philippart,
“Pheno/genotypic Correlations of Neuronal Ceroid Lipo-
fuscinoses,” Neurology, Vol. 57, No. 4 , 2001, pp. 576-581.
[28] J. A. Lowden and J. S. O’Brien, “Sialidosis: A Review of
Human Neuraminidase Deficiency,” American Journal of
Human Genetics, Vol. 31, No. 1, 1979, pp. 1-18.
[29] A. Federico, S. Battistini, S. G. Ciacci, et al., “Cherry-red
Spot Myoclonus Syndrome (Type I Sialidosis),” Develop-
mental Neuroscience, Vol. 13, 1991, pp. 320-326.
[30] J. K. Park, E. Orvisky, N. Tayebi, et al., “Myoclonic
Epilepsy in Gaucher Disease: Genotype-phenotype
Insights from a Rare Patient Subgroup,” Pediatric
Research, Vol. 53, No. 3, 2003, pp. 387-395.
[31] M. Sevin, G. Lesca, N. Baumann, et al., “The Adult form
of Niemann-Pick Disease Type C,” Brain, Vol. 130, No.
1, 2007, pp.120-133. doi:10.1093/brain/awl260
[32] S. Ganesh, R. Puri, S. Singh, S. Mittal and D. Dubey,
“Recent Advances in the Molecular Basis of Lafora’s
Progressive Myoclonus Epilepsy,” Journal of Human
Genetics, Vol. 51, No. 1, 2006, pp. 1-8.
[33] V. Leuzzi, “Inborn Errors of Creatine Metabolism and
Copyright © 2011 SciRes. JBBS