• 1
    Menkes JH. Kinky hair disease. Pediatrics 1972;50: 181183.
  • 2
    Danks DM, Cartwright E, Stevens BJ, et al. Kinky hair disease: further definition of the defect in copper transport. Science 1973;179: 11401142.
  • 3
    Menkes JH. Kinky hair disease: twenty five years later. Brain Dev 1988;10: 7779.
  • 4
    Danks DM, Cartwright E, Stevens BJ. Menkes steely-hair (kinky-hair) disease. Lancet 1973;1: 891.
  • 5
    Uno H, Arya S. Neuronal and vascular disorders of the brain and spinal cord in Menkes kinky hair disease. Am J Med Genet Suppl 1987;3: 367377.
  • 6
    Robain O, Aubourg P, Routon MC, et al. Menkes disease: a Golgi and electron microscopic study of the cerebellar cortex. Clin Neuropathol 1988;7: 4752.
  • 7
    Harrison MD, Dameron CT. Molecular mechanisms of copper metabolism and the role of the Menkes disease protein. J Biochem Mol Toxicol 1999;13: 93106.
  • 8
    Kaler SG. Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Pediatr Dev Pathol 1998;1: 8598.
  • 9
    Kaler SG, Goldstein DS, Holmes C, et al. Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease. Ann Neurol 1993;33: 171175.
  • 10
    Llanos RM, Mercer JF. The molecular basis of copper homeostasis copper-related disorders. DNA Cell Biol 2002;21: 259270.
  • 11
    Chelly J, Tumer Z, Tonnesen T, et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nat Genet 1993;3: 1419.
  • 12
    Tumer Z, Moller LB, Horn N. Mutation spectrum of ATP7A, the gene defective in Menkes disease. Adv Exp Med Biol 1999;448: 8395.
  • 13
    Voskoboinik I, Camakaris J. Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease. J Bioenerg Biomembr 2002;34: 363371.
  • 14
    Friedman E, Harden A, Koivikko M, et al. Menkes disease: neurophysiological aspects. J Neurol Neurosurg Psychiatry 1978;41: 505510.
  • 15
    White SR, Reese K, Sato S, et al. Spectrum of EEG findings in Menkes disease. Electroencephalogr Clin Neurophysiol 1993;87: 5761.
  • 16
    Venta-Sobero JA, Porras-Kattz E, Gutierrez-Moctezuma J. (West syndrome as an epileptic presentation in Menkes' disease: two cases report). Rev Neurol 2004;39: 133136.
  • 17
    Sfaello I, Castelnau P, Blanc N, et al. Infantile spasms and Menkes disease. Epileptic Disord 2000;2: 227230.
  • 18
    Horn N. Copper incorporation studies on cultured cells for prenatal diagnosis of Menkes' disease. Lancet 1976;1: 11561158.
  • 19
    Dulac O, Plouin P, Shewmon A. Myoclonus and epilepsy in childhood: 1996 Royaumont meeting 1. Epilepsy Res 1998;30: 91106.
  • 20
    Zhongshu Z, Weiming Y, Yukio F, et al. Clinical analysis of West syndrome associated with phenylketonuria. Brain Dev 2001;23: 552557.
  • 21
    Naito E, Ito M, Yokota I, et al. Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency. Neuropediatrics 2001;32: 295298.
  • 22
    Shah NS, Mitchell WG, Boles RG. Mitochondrial disorders: a potentially under-recognized etiology of infantile spasms. J Child Neurol 2002;17: 369372.
  • 23
    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: 265269.
  • 24
    Collins JE, Nicholson NS, Dalton N, et al. Biotinidase deficiency: early neurological presentation. Dev Med Child Neurol 1994;36: 268270.
  • 25
    Iizuka T, Sakai F, Suzuki N, et al. Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome. Neurology 2002;59: 816824.
  • 26
    Alleyne T, Joseph J, Lalla A, et al. Cytochrome-c oxidase isolated from the brain of swayback-diseased sheep displays unusual structure and uncharacteristic kinetics. Mol Chem Neuropathol 1998;34: 233247.
  • 27
    Yajima K, Suzuki K. Neuronal degeneration in the brain of the brindled mouse: a light microscope study. J Neuropathol Exp Neurol 1979;38: 3546.
  • 28
    Yajima K, Suzuki K. Neuronal degeneration in the brain of the brindled mouse, II: ultrastructure of neuronal inclusions in the cerebral cortex. Acta Neuropathol (Berl) 1979;48: 133137.
  • 29
    Yajima K, Suzuki K. Neuronal degeneration in the brain of the brindled mouse: an ultrastructural study of the cerebral cortical neurons. Acta Neuropathol (Berl) 1979;45: 1725.
  • 30
    Carnes WH. Role of copper in connective tissue metabolism. Fed Proc 1971;30: 9951000.
  • 31
    Danks DM, Campbell PE, Walker-Smith J, et al. Menkes' kinky-hair syndrome. Lancet 1972;1: 11001102.
  • 32
    Chugani HT, Shields WD, Shewmon DA, et al. Infantile spasms, I: PET identifies focal cortical dysgenesis in cryptogenic cases for surgical treatment. Ann Neurol 1990;27: 406413.
  • 33
    Juhasz C, Chugani HT, Muzik O, et al. Neuroradiological assessment of brain structure and function and its implication in the pathogenesis of West syndrome. Brain Dev 2001;23: 488495.
  • 34
    Dulac O. What is West syndrome? Brain Dev 2001;23: 447452.
  • 35
    Trevathan E. Infantile spasms and Lennox-Gastaut syndrome. J Child Neurol 2002;17: 2S92S22.
  • 36
    Kotagal P. Multifocal independent spike syndrome: relationship to hypsarrhythmia and the slow spike-wave (Lennox-Gastaut) syndrome. Clin Electroencephalogr 1995;26: 2329.