A total of 118 patients with epilepsy and intellectual/developmental disabilities were examined. All patients underwent molecular genetic testing to confirm/exclude mutations in the sodium channel genes - SCN1A, SCN2A. This study confirmed the negative impact of gene mutations on the developing brain, intellectual disabilities, and severe resistant epilepsy. The irreversible impact of epilepsy with a manifestation in early childhood on the developing brain explains necessity of genetic investigations to the earliest stages of epilepsy treatment.
| Mualliflar | Шамансуров Шаанвар Шамуратович, Саидазизова Шахло Хибзиддиновна, Туляганова Нодирахон Маликовна, Самадов Фуркат Насибжанович, Усманова Парвиза Талъатовна, Назарова Садокат Одиловна, Абдуяминова Зиёдахон Джахангировна |
|---|---|
| Jurnal | Журнал неврологии и нейрохирургических исследований / Journal of Neurology and Neurosurgical Research |
| Nashr sanasi | 2025-05-18 |
| Jild | 6 |
| Son | 3 |
| Til | Rus |
эпилепсия, эпилептическая энцефалопатия, каналопатии, противоэпилептические препараты, блокаторы натриевых каналов, epilepsy, epileptic encephalopathy, channelopathies, antiepilepsy drugs, sodium channel blockers, эпилепсия, эпилептик энцефалопатия, эпилепсияга карши дори воситалар, каналопатиялар, натрий каналларни блоклувчилари
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