نتایج جستجو برای: scn1a mutations
تعداد نتایج: 173129 فیلتر نتایج به سال:
Dravet syndrome is a devastating genetic brain disorder caused by heterozygous loss-of-function mutation in the voltage-gated sodium channel gene SCN1A. There are currently no treatments, but the upregulation of SCN1A healthy allele represents an appealing therapeutic strategy. In this study we identified a novel, evolutionary conserved mechanism controlling the expression of SCN1A that is medi...
Dravet syndrome (DS) is a rare, devastating form of childhood epilepsy that is often associated with mutations in the voltage-gated sodium channel gene, SCN1A. There is considerable variability in expressivity within families, as well as among individuals carrying the same primary mutation, suggesting that clinical outcome is modulated by variants at other genes. To identify modifier gene varia...
Commentary Dravet syndrome (DS) is a severe pediatric epilepsy that presents with multiple seizure types commonly resistant to pharmacologic treatment, as well as intellectual disability, behavioral abnormalities, gait and motor dysfunction, and increased mortality (1). In most cases, the disease is caused by heterozygous de novo mutations or gene deletions of SCN1A, the gene encoding the pore-...
objective (s): from a genetic point of view, epilepsy is a polygenic multifactorial syndrome. the scn1a and b genes belong to a family of genes that provide instructions for making sodium channels. understanding the relevance of scn1a and scn1b gene polymorphisms to plasma concentration of carbamazepine (cbz) and its active metabolite carbamazepine 10, 11 epoxide (cbze), may shed more light on ...
OBJECTIVE To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. METHODS A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation. RESULTS We identified 9 children 3 to 12 years of age; 7 were male. Seizure onset was at 6 to 12 weeks with hemiclonic s...
Objective (s): From a genetic point of view, epilepsy is a polygenic multifactorial syndrome. The SCN1A and B genes belong to a family of genes that provide instructions for making sodium channels. Understanding the relevance of SCN1A and SCN1B gene polymorphisms to plasma concentration of carbamazepine (CBZ) and its active metabolite carbamazepine 10, 11 epoxide (CBZE), may shed more light on ...
AIM Approximately a third of newly diagnosed epilepsy patients do not respond to antiepileptic drugs (AEDs). Evidence suggests that low penetrance variants in the genes of drug targets such as voltage-gated sodium channels may be involved in drug responsiveness. To examine this hypothesis, we compared data from two epilepsy cohorts from Malaysia and Hong Kong, as well as a meta-analysis from pu...
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