Neurol. pro Praxi, 2003; 4: 176-180

Geneticky podmíněné epilepsie a epileptické syndromy

MUDr. Tomáš Procházka
Neurologické oddělení - spánková laboratoř, Nemocnice Na Homolce, Praha

Keywords: epilepsie, epileptický syndrom, genetika, iontový kanál, kanálopatie.

Published: December 31, 2003  Show citation

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Procházka T. Geneticky podmíněné epilepsie a epileptické syndromy. Neurol. praxi. 2003;4(4):176-180.

Članek podává přehled o pokroku v genetickém výzkumu epilepsií. V posledních letech byly objeveny kauzálni mutace u monogenních epileptických syndromů (benigních familiárních novorozeneckých křečí, autosomálně dominantní noční frontální epilepsie, syndromu generalizované epilepsie s febrilními záchvaty -plus- a těžké myoklonické epilepsie v dětství). V těchto případech se jedná o mutace v podjednotkách iontových kanálů. Familiární temporální epilepsie jsou klinicky i geneticky heterogenní. Dědičnost idiopatických generalizovaných epilepsií je komplexní, univerzální gen pro vrozenou dispozici k záchvatům dosud nebyl nalezen. Je diskutováno zařazení idiopatických epilepsií mezi kanálopatie.

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