Association study of idiopathic primary generalized epilepsy (IGE)

摘要: s 429 with a 25year history of anticonvulsant drug-resistant complex partial seizures. Computer analysis captured images revealed over 100 differentially regulated genes, some involved in neurotransmitter release, plasticity and signalling mechanisms. Other candidate genes were novel. Secondary validation selected clones re-gridded was undertaken by hybridizing newly constructed probes derived from further RNA samples the same epileptic patient control. This technology is an effective approach to analysing gene expression changes may yield new targets therapeutic intervention epilepsy. Association study idiopathic primary generalized epilepsy (IGE) A. Makoff*+, B. Chioza’i, N. Currant, F! Ashersod & L. Nashefsl *Department Psychological Medicine, institute Psychiatry, London, UK; t Department Neuroscience, $ Social Genetic Developmental Psychiatry Research Centre, Institute 5 Kent Canterbury Hospital, IKings College UK Twin studies have demonstrated concordance rates up 95% for monozygotic twin pairs. There are few rare mendelian forms IGE, but most show pattern inheritance. The relative risk IGE among first-degree relatives range 5-10 suggesting that association will be required detect expected small effects. We collected initial sample probands ethnically matched controls. Our focused on metabotropic glutamate receptor type 7 (mGluR7) (r4 nicotinic acetylcholine subunit (nAchRo4). Mouse knockouts mGluR7 result phenotype. Studies biallelic polymorphisms progress. Mutations within nAchRo4 been shown cause dendelian autosomal dominant nocturnal frontal lobe (ADNFLE). An mixture different syndromes provides evidence nAchrcr4. lies only 50 Kb voltage-sensitive potassium channel (KCNQ2) which mutations one another epilepsy, benign familial neonatal convulsions (BFNC). currently utilizing nAchRa4 KCNQ2 our sample. Functional structural findings diffusion weighted imaging U.C. Wieshamnn, MR. Symms S.D. Shorvon Epilepsy Group, Neurology, Queen Square, Diffusion (DWI) magnetic resonance technique sensitive molecular motion water. Transient or permanent microstructural organization tissue, example, widening shrinkage extracellular space can detected DWI. used DWI investigate patients In focal status we transient likely reflect neuronal dysfunction. During interictal stage found increased lesions associated These included hippocampal sclerosis, tumours brain damage. reduced anisotropy water breakdown organization. A reduction predominant finding cortical dysgenesis. conclusion, epilepticus. addition, information about microstructure help understand pathophysiology