Epilepsy genetics

Philips, H.A., Shaffer, I.E., Crossland, K.M., Bhatia, K.P., Fish, D.R., Marsden, C.D. et al., 1998. Autosomal dominant nocturnal frontal-lobe epilepsy genetic heterogeneity and evidence for a second locus at 15q24. Am. J. Hum. Genet. 63, 1108-1116. 

Jobe, PC, Mishra, PK, Ludwig, N and Dailey, JW (1991) Scope and contribution of genetic models to an understanding of the epilepsies. Crit. Rev. Neurobiol. 6 183-215. 

For nearly 80% of patients with epilepsy, the underlying etiology is unknown.8 The most common recognized causes of epilepsy are head trauma and stroke. Developmental and genetic defects are the cause of about 5% of cases of epilepsy. Central nervous system (CNS) tumors, central nervous system infections, and neurodegen-erative diseases are other common causes. Other important causes of epilepsy are human immunodeficiency virus infection or neuro-cysticercosis infection, primarily occurring in Latin America. 

Idiopathic epilepsies These syndromes are thought to be due to genetic alterations, but the underlying etiology is not identified. Neurologic functions are completely normal apart from the occurrence of seizures. 

Huang, Y., Ding, H., Wang, W. Z. et al. (2002a). The genetic polymorphisms of CYP2C19 and CYP2C9 in Chinese patients with epilepsy. Journal of Chinese Clinical Medicine, 3(20), 4-6. 

Birioukova LM, Midzyanovskaya IS, Lensu S, Tuomisto L, van Luijtelaar G. Distribution of Di-like and D2-like dopamine receptors in the brain of genetic epileptic WAG/Rij rats. Epilepsy Res 2005 63 89-96. 

Many forms of epilepsy have genetic determinants 635... 

Kalachikov, S., Evgrafov, O., Ross, B. et al. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat. Genet. 30 335-341, 2002. 

A broad variety of diseases may cause neuropathic pain. The majority of diseases associated with neuropathic pain involve the peripheral nervous system. These diseases include traumatic injuries hereditary, metabolic, inflammatory or paraneoplastic neuropathies and infections. However, neuropathic pain can also be caused by injuries or disorders affecting the spinal cord or the brain (central neuropathic pain) tumors stroke epilepsy and neurodegenerative disorders [20]. Genetic factors appear to contribute to inter-individual differences in the susceptibility to neuropathic pain. 

Zinc is important to the normal functioning of the central nervous system (CNS). At low concentrations, zinc protects mammalian brain neurons by blocking N-methyl-D-aspartate receptor-mediated toxicity. At high concentrations, zinc is a potent, rapidly acting neurotoxicant in the mammalian brain, as judged by zinc-induced neuronal injury of in vitro mature cortical cell cultures (Choi et al. 1988). Increased brain levels of zinc are associated with Pick s disease in certain strains of rodents with inherited epileptic seizures. Intravenous injection of zinc in rats with genetically inherited epilepsy produces seizures a similar response occurs with intracranial injection of zinc in rabbits with inherited audiogenic seizures (Choi et al. 1988). 

There are numerous metabolic diseases, infantile and other tetanies, steatorrhea, osteomalacia, arthritis of old age, epilepsy, etc., in which calcium either is or may be implicated. Each of these diseases needs to be studied against a background of wide variability in calcium needs, probably genetically determined, and involving "normal" individuals as well as those having overt disease. 

De Fusco M, Becchetti A, Patrignani A, Annesi G, GanbardeUa A, Quattrone A, Ballabio A, Wanke E, Casari G (2000) The nicotinic receptor P2 is mutant in nocturnal frontal lobe epilepsy, Nat Genetics 26 275-276... 

Phillips HA, Favre I, Kilpatrick M, Zuberi SM, Goudie D, Heron SE, Scheffer IE, Sutherland GR, Berkovic SF, Bertrand D, Mulley JC (2001) CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet... 

Steinlein OK, MuUey JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF (1995) A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 11 201-203... 

Sander, T., Berlin, W., Gscheidel, N., Wendel, B., Janz, D., and Hoehe, M. R. (2000) Genetic variation of the human mu-opioid receptor and susceptibility to idiopathic absence epilepsy. Epilepsy Res. 39, 57-61. 

N. G. GABA release and uptake measured in crude synaptosomes from genetic absence epilepsy rats from Strasbourg (GAERS). 

Mamiya K, leiri I, Shimamoto J, Yukawa E, Imai J, Ni-nomiya H et al. The effects of genetic polymorphims of CYP2C9 and CYP2C19 on phenytoin metabohsm in Japanese adult patients with epilepsy studies in stereoselective hydroxylation and population pharmacokinetics. Epilepsia 1998 29(12) 1317-23. 

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