EVALUATION OF THE EFFICIENCY OF CHANNELOPATHIES DETECTION IN THE TREATMENT OF PATIENTS WITH EPILEPSY
Keywords:
epilepsy, epileptic encephalopathy, channelopathies, antiepilepsy drugs, sodium channel blockersAbstract
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.
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