Download Oxford Textbook of Epilepsy and Epileptic Seizures by Mark Cook, Samden Lhatoo PDF

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By Mark Cook, Samden Lhatoo

Epilepsy is the commonest severe neurological , affecting little ones and adults, and will take place in a number of scientific settings. It has many explanations and lots of kinds, and a variable analysis. Mortality and morbidity are excessive, social and criminal outcomes can stretch way past the basically scientific, and its administration is usually bad.

Part of the Oxford Textbooks in scientific Neurology (OTCN) sequence, this quantity covers the clinical foundation, medical analysis, and therapy of epilepsy and epileptic seizures. Written by means of internationally-renowned experts, each one bankruptcy comprehensively covers the present wisdom and facts base concerning every one element of the ailment, with an emphasis at the own adventure of the authors.

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Example text

The disorder is caused by a defect of alpha-amino adipic semialdehyde (α-AASA) dehydrogenase (antiquitin) in the cerebral lysine degradation pathway (138). The possibility of dosing specific metabolites such as α-AASA (139) and of mutation analysis has meant that pyridoxine withdrawal is no longer needed to establish the diagnosis. Epilepsy related to glucose transporter type 1 deficiency syndrome (GLUT1-DS) provides a paradigmatic example of how once the core phenotypic spectrum of a genetically determined inherited neurometabolic disorder has been defined, availability of biological and molecular markers allows progressive delineation of the syndrome spectrum.

103. Chen Y, Lu J, Pan H, Wu H, Xu K, Liu X, et al. Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann Neurol 2003; 54:239–43. 104. Heron SE, Phillips HA, Mulley JC, Mazarib A, Neufeld MY, Berkovic SF, et al. Genetic variation of CACNA1H in idiopathic generalized epilepsy. Ann Neurol 2004; 55:595–6. 105. Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, et al. GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.

Is seizure duration the most important predictor of temporal lobe epilepsy? Brain 1995; 118:1521–8. 63. Johnson WG, Kugler SL, Stenroos ES, Meulener MC, Rangwalla I, Johnson TW, et al. Pedigree analysis in families with febrile seizures. Am J Med Genet 1996; 61:345–52. 64. Baulac S, Gourfinkel-An I, Nabbout R, Huberfeld G, Serratosa J, Leguern E, et al. Fever, genes, and epilepsy. Lancet Neurol 2004; 3:421–30. 65. Dibbens LM, Tarpey PS, Hynes K, Bayly MA, Scheffer IE, Smith R, et al. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

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