ABSTRACT
Abnormal expression and dysfunction of voltage-gated Calcium channels (VGCCs) can give rise to a variety of neurological disorders in children, including epilepsy, migraine and ataxia.In the past, only CACNA1A, CACNA1H, CACNA2D2 and CACNB4 were considered associated with epilepsy in children.In recent years, an increasing number of VGCCs gene associated with epilepsy in children have been found, especially developmental and epileptic encephalopathy genes.This study aims to review the research progress of VGCCs gene mutations associated with epilepsy in children.
ABSTRACT
Dravet syndrome is a rare and severe developmental epileptic encephalopathy with variable clinical phenotypes.Dravet syndrome is difficult to diagnose and treat, and related comorbidities have a profound impact on the long-term quality of life of patients and their parents.SCN1A is the main pathogenic gene of Dravet syndrome, and SCN1A mutations are found in more than 85% of the patients.In recent years, with the development of genetic testing technology and the accumulation of cases, the understanding of the characteristics of epileptic seizures, comorbidities and SCN1A gene mutation characteristics in Dravet syndrome has gradually deepened.In addition to conventional antiepileptic drugs, new antiepileptic drugs(cannabidiol, fenfluramine)have also shown good antiepileptic effects and are expected to become second-line drugs for the treatment of Dravet syndrome seizures.This article mainly reviews the research progress of unique clinical phenotype, SCN1A gene mutation characteristics and new antiepileptic drugs of Dravet syndrome, in order to deepen clinicians′ understanding of the disease.