Read e-book online Oxford Textbook of Epilepsy and Epileptic Seizures PDF

By Mark Cook, Samden Lhatoo

ISBN-10: 0199659044

ISBN-13: 9780199659043

Epilepsy is the commonest severe neurological , affecting youngsters and adults, and will take place in quite a few scientific settings. It has many explanations and plenty of kinds, and a variable diagnosis. Mortality and morbidity are excessive, social and criminal effects can stretch way past the in simple terms clinical, and its administration is usually bad.

Part of the Oxford Textbooks in scientific Neurology (OTCN) sequence, this quantity covers the medical foundation, scientific prognosis, and remedy of epilepsy and epileptic seizures. Written by means of internationally-renowned experts, each one bankruptcy comprehensively covers the present wisdom and facts base with regards to every one element of the disease, with an emphasis at the own event of the authors.

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Sample text

GLUT-1 deficiency syndrome caused by haploinsufficiency of the blood–brain barrier hexose carrier. Nat Genet 1998; 18:188–91. 141. De Vivo DC, Trifiletti RR, Jacobson RI, Ronen GM, Behmand RA, Harik SI. Defective glucose transport across the blood–brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 1991; 325:703–9. 142. Leary LD, Wang D, Nordli DR Jr, Engelstad K, De Vivo DC. Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome.

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am J Hum Genet 2007; 81:361–6. 78. Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, et al. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Hum Mol Genet 2005; 14:1935–46. 79. Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kübart S, et al.

Am J Hum Genet 2003; 73:261–70. 108. Dibbens LM, Ekberg J, Taylor I, Hodgson BL, Conroy SJ, Lensink IL, et al. NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity. Genes Brain Behav 2007; 6:750–5. 109. Guerrini R, Carrozzo R. Epilepsy and genetic malformations of the cerebral cortex. Am J Med Genet 2001; 106:160–73. 110. Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrini R, Dobyns WB. A developmental and genetic classification for malformations of cortical development.

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


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