Abstract
The authors provide a review of the clinical and genetic characteristics of hereditary diseases and syndromes accompanied by febrile convulsions, which is illustrated by examples of their own observations. The paper sets forth the possibilities and limitations of using current methods for the molecular genetic diagnosis of idiopathic and symptomatic epilepsies. The most effective and less expensive technique of molecular genetic analysis is shown to be an exome sequencing test using the panels of genes responsible for the occurrence of diseases with simi1ar clinical symptoms. The paper also presents the structure of the panel of genes responsible for the occurrence of monogenic epilepsies, which has been designed at the Genomed Clinic and includes 448 genetic variants. It also determines the significance of using a chromosomal microarray analysis to diagnose both chromosomal and monogenic diseases accompanied by convulsions.
Highlights
The authors provide a review of the clinical and genetic characteristics of hereditary diseases and syndromes accompanied by febrile convulsions, which is illustrated by examples of their own observations
The paper sets forth the possibilities and limitations of using current methods for the molecular genetic diagnosis of idiopathic and symptomatic epilepsies
The most effective and less expensive technique of molecular genetic analysis is shown to be an exome sequencing test using the panels of genes responsible for the occurrence of diseases with simi1ar clinical symptoms
Summary
Что приблизительно у 3–5 % детей [16, 19, 30] в возрасте от 6 мес до 5 лет отмечались судорожные пароксизмы при повышении температуры тела выше 38 °C [26]. Систематика наследственных заболеваний в группе идиопатических эпилепсий, сопровождающихся фебрильными судорогами ИЭ – генетически гетерогенные и клинически полиморфные патологические состояния, характеризующиеся возникновением эпилептических приступов при отсутствии структурных повреждений мозга и очаговой неврологической симптоматики, причина которых не ясна [1, 3, 20].
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