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Epilepsy: a review of selected clinical syndromes and advances in basic science Stafstrom CEJ Cereb Blood Flow Metab 2006[Aug]; 26 (8): 983-1004Epilepsy is a common neurologic disorder that manifests in diverse ways. There are numerous seizure types and numerous mechanisms by which the brain generates seizures. The two hallmarks of seizure generation are hyperexcitability of neurons and hypersynchrony of neural circuits. A large variety of mechanisms alters the balance between excitation and inhibition to predispose a local or widespread region of the brain to hyperexcitability and hypersynchrony. This review discusses five clinical syndromes that have seizures as a prominent manifestation. These five syndromes differ markedly in their etiologies and clinical features, and were selected for discussion because the seizures are generated at a different 'level' of neural dysfunction in each case: (1) mutation of a specific family of ion (potassium) channels in benign familial neonatal convulsions; (2) deficiency of the protein that transports glucose into the CNS in Glut-1 deficiency; (3) aberrantly formed local neural circuits in focal cortical dysplasia; (4) synaptic reorganization of limbic circuitry in temporal lobe epilepsy; and (5) abnormal thalamocortical circuit function in childhood absence epilepsy. Despite this diversity of clinical phenotype and mechanism, these syndromes are informative as to how pathophysiological processes converge to produce brain hyperexcitability and seizures.|*Epilepsy/genetics/metabolism/physiopathology[MESH]|Animals[MESH]|Biological Transport/genetics[MESH]|Cerebral Cortex/metabolism/pathology[MESH]|Glucose Transporter Type 1/deficiency/metabolism[MESH]|Glucose/metabolism[MESH]|Humans[MESH]|Limbic System/metabolism/pathology[MESH]|Mutation[MESH]|Potassium Channels/genetics/metabolism[MESH]|Signal Transduction/genetics[MESH] |
