"Genetika se v sou\u010Dasnosti stala jedn\u00EDm z nejd\u016Fle\u017Eit\u011Bj\u0161\u00EDch proud\u016F celosv\u011Btov\u00E9ho epileptologick\u00E9ho v\u00FDzkumu. Epilepsie, u kter\u00FDch p\u0159edpokl\u00E1d\u00E1me genetickou p\u0159\u00ED\u010Dinu, ozna\u010Dujeme jako \u201Eidiopatick\u00E9\u201C. V jejich patogenezi poukazuj\u00ED genetick\u00E9 v\u00FDzkumy posledn\u00EDch let na rozhoduj\u00EDc\u00ED roli iontov\u00FDch kan\u00E1l\u016F. Iontov\u00E9 kan\u00E1ly rozd\u011Blujeme na nap\u011B\u0165ov\u011B-\u0159\u00EDzen\u00E9 a ligandem-\u0159\u00EDzen\u00E9. Mutace v nap\u011B\u0165ov\u011B \u0159\u00EDzen\u00FDch kan\u00E1lech (natriov\u00FDch, kaliov\u00FDch, chloridov\u00FDch, kalciov\u00FDch) jsou \u010Dasto v\u00E1zan\u00E9 s generalizovan\u00FDmi epilepsiemi a syndromy s infantiln\u00EDmi spazmy. Mutace v ligandem \u0159\u00EDzen\u00FDch kan\u00E1lech (nikotinov\u00E9 acetylcholinov\u00E9 receptory, GABA receptory) jsou asociovan\u00E9 se specifick\u00FDmi syndromy fok\u00E1ln\u00EDch (autozom\u00E1ln\u011B dominantn\u00ED epilepsie front\u00E1ln\u00EDho laloku) i n\u011Bkter\u00FDch generalizovan\u00FDch epilepsi\u00ED. Bylo pops\u00E1no i n\u011Bkolik mutac\u00ED gen\u016F ve vztahu k idiopatick\u00FDm generalizovan\u00FDm epilepsi\u00EDm, kter\u00E9 nek\u00F3duj\u00ED iontov\u00E9 kan\u00E1ly. U d\u011Bt\u00ED a mlad\u00FDch dosp\u011Bl\u00FDch jsou idiopatick\u00E9 epilepsie \u010Dast\u00E9 a identifikace geneticko-biologick\u00E9 etiopatogeneze perspektivn\u011B umo\u017En\u00ED individualizaci a c\u00EDlen\u00ED farmakologick\u00E9 l\u00E9\u010Dby v klinick\u00E9 praxi. \u010Cl\u00E1nek pod\u00E1v\u00E1 p\u0159ehled o nejnov\u011Bj\u0161\u00EDch poznatc\u00EDch na poli genetick\u00E9ho v\u00FDzkumu epilepsi\u00ED."@cs . . "Genetick\u00E9 aspekty %22idiopatick\u00FDch%22 epilepsi\u00ED" . . . "Chovan\u010D\u00EDkov\u00E1, Marie" . "Genetic aspects of \u201Eidiopathic\u201C epilepsies"@en . "I, V" . . "Neurologie pro praxi" . . "Genetika se v sou\u010Dasnosti stala jedn\u00EDm z nejd\u016Fle\u017Eit\u011Bj\u0161\u00EDch proud\u016F celosv\u011Btov\u00E9ho epileptologick\u00E9ho v\u00FDzkumu. Epilepsie, u kter\u00FDch p\u0159edpokl\u00E1d\u00E1me genetickou p\u0159\u00ED\u010Dinu, ozna\u010Dujeme jako \u201Eidiopatick\u00E9\u201C. V jejich patogenezi poukazuj\u00ED genetick\u00E9 v\u00FDzkumy posledn\u00EDch let na rozhoduj\u00EDc\u00ED roli iontov\u00FDch kan\u00E1l\u016F. Iontov\u00E9 kan\u00E1ly rozd\u011Blujeme na nap\u011B\u0165ov\u011B-\u0159\u00EDzen\u00E9 a ligandem-\u0159\u00EDzen\u00E9. Mutace v nap\u011B\u0165ov\u011B \u0159\u00EDzen\u00FDch kan\u00E1lech (natriov\u00FDch, kaliov\u00FDch, chloridov\u00FDch, kalciov\u00FDch) jsou \u010Dasto v\u00E1zan\u00E9 s generalizovan\u00FDmi epilepsiemi a syndromy s infantiln\u00EDmi spazmy. Mutace v ligandem \u0159\u00EDzen\u00FDch kan\u00E1lech (nikotinov\u00E9 acetylcholinov\u00E9 receptory, GABA receptory) jsou asociovan\u00E9 se specifick\u00FDmi syndromy fok\u00E1ln\u00EDch (autozom\u00E1ln\u011B dominantn\u00ED epilepsie front\u00E1ln\u00EDho laloku) i n\u011Bkter\u00FDch generalizovan\u00FDch epilepsi\u00ED. Bylo pops\u00E1no i n\u011Bkolik mutac\u00ED gen\u016F ve vztahu k idiopatick\u00FDm generalizovan\u00FDm epilepsi\u00EDm, kter\u00E9 nek\u00F3duj\u00ED iontov\u00E9 kan\u00E1ly. U d\u011Bt\u00ED a mlad\u00FDch dosp\u011Bl\u00FDch jsou idiopatick\u00E9 epilepsie \u010Dast\u00E9 a identifikace geneticko-biologick\u00E9 etiopatogeneze perspektivn\u011B umo\u017En\u00ED individualizaci a c\u00EDlen\u00ED farmakologick\u00E9 l\u00E9\u010Dby v klinick\u00E9 praxi. \u010Cl\u00E1nek pod\u00E1v\u00E1 p\u0159ehled o nejnov\u011Bj\u0161\u00EDch poznatc\u00EDch na poli genetick\u00E9ho v\u00FDzkumu epilepsi\u00ED." . "Jansov\u00E1, Eva" . "Genetick\u00E9 aspekty %22idiopatick\u00FDch%22 epilepsi\u00ED" . . . . "Genetick\u00E9 aspekty %22idiopatick\u00FDch%22 epilepsi\u00ED"@cs . . "Rusn\u00E1kov\u00E1, \u0160tef\u00E1nia" . "O\u0161lej\u0161kov\u00E1, Hana" . "RIV/65269705:_____/12:#0001894" . "1213-1814" . . "epilepsy"@en . "6"^^ . "4"^^ . "7"^^ . . "Genetick\u00E9 aspekty %22idiopatick\u00FDch%22 epilepsi\u00ED"@cs . "Genetic aspects of \u201Eidiopathic\u201C epilepsies"@en . . "Nowadays we should suppose that epileptology come in the period of DNA and the genetics has become one of main trend of research in epileptology over the world. Epilepsies in which genetic background is predicted are called \u201Cidiopathic\u201D. In recent years genetic discoveries have shown the central role of ion channels in the pathophysiology of idiopathic epilepsies. Ion channels are divided to voltage-gated and ligand-gated ion channels. For voltage-gated ion channels, mutation of Na+, K+ and Cl- channels are associated with forms of generalized epilepsy and infantile seizures syndromes. Mutations in ligand-gated ion channels, such as nicotinic acetylcholine receptors and GABA receptors, are associated with specific syndromes of frontal and generalized epilepsies, respectively. Mutations in few genes that do not encode ion channels have been identified in the idiopathic human epilepsies. In children and young adults are idiopathic epilepsies often, that\u00B4 s way identification of the genetic-biological ethiopatogenesy can perspectively lead to individualization and selection of farmacotherapy in clinical practice. The article suggests the summary of up-todate discoveries in the field of genetic epilepsy research."@en . . . "Kuba, Robert" . . "[496BEB44E43E]" . . . "2" . "Fajkusov\u00E1, Lenka" . . "13" . . "137935" . "RIV/65269705:_____/12:#0001894!RIV13-MZ0-65269705" . "CZ - \u010Cesk\u00E1 republika" .