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References
1. Lyon G, Adams RD, Kolodny EH. Neurology of Hereditary Metabolic Diseases of Children (2nd ed). New York: McGraw-Hill, 1996. 2. Anderson VE, Hauser WA. Genetics of epilepsy. In AG Bearn, AG Motulskey, B Childs (eds), Progress in Medical Genetics: VI. Genetics of Neurological Disorders. New York: Praeger, 1998;9–52. 3. Pomponio RJ, Reynolds TR, Cole H, et al. Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency. Nat Genet 1995;11:96–98. 4. Plecko B, Stockler-Ipsiroglu S, Paschke E, et al. Pipecolic acid evaluation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. Ann Neurol 2000;48:121–125. 5. Seidner G, Alvarez MG, Yeh J-I, et al. GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood-brain barrier hexose carrier. Nat Genet 1998;18:188–191. 6. Minassian BA, Ianzano L, Delgado-Escueta AV, Scherer SW. Identification of new and common mutations in the EPM2A gene in Lafora disease. Neurology 2000;54:488–490. 7. Szepetowski P, Monaco AP. Recent progress in the genetics of human epilepsies. Neurogenetics 1998;1:153–163. 8. Berkovic SF, Genton P, Hirsch E, Picard F. Genetics of Focal Epilepsies. London: John Libbey, 1999. 9. Ryan SG. Ion channels and the genetic contribution to epilepsy. J Child Neurol 1999;14:58–66. 10. Altman N, et al. Advanced magnetic resonance imaging of disorders of neuronal migration and sulcation. Int Pediatr 1995;10[Suppl 1]:16–25. Adapted from: Kolodny, EH. Metabolic and genetic disorders. In: Devinsky O and Westbrook LE, eds. Epilepsy and Developmental Disabilities. Boston: Butterworth-Heinemann; 2001;17–22. |
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