-
In vivo, in vitro and in silico correlations of four de novo SCN1A missense mutations causing the Dravet syndrome in pediatric patients have been reported.
-
We have shown that mutations in CACNA1A, ATP1A2 and SCN1A are not the major cause of the disease in Finnish hemiplegic migraine patients
-
Genotype distributions of all selected SNPs were consistent with the Hardy-Weinberg equilibrium in epilepsy patients. SCN1A rs3812718 and SCN2A rs2304016 were found to be significantly associated with VPA response, both in monotherapy and in VPA-based polytherapy.
-
Polymorphisms of rs3812718 of the SCN1A gene is associated with carbamazepine resistance among ethnic Zhuang Chinese epilepsy patients from Baise region
-
The study report the second recurrent SCN1A mutation causing a pure familial hemiplegic migraine phenotype and provide evidence that elicited repetitive daily blindness is a rare occurrence in familial hemiplegic migraine type 3 patients, even in carriers of the same mutation.
-
SCN1A mutations may be involved in focal epilepsy with auditory features within the GEFS+ spectrum.
-
we investigated whether the SCN1A polymorphism rs3812718 could be associated with VPA resistance..our results proved that the rs3812718 TT genotype was associated with a high risk of developing drug resistance, and the recessive model could decrease the risk of VPA resistance.
-
We used an ultra-sensitive quantification method, micro-droplet digital PCR (mDDPCR), to detect parental mosaicism of the proband's pathogenic mutation in SCN1A, the causal gene of Dravet syndrome in 112 families. Ten of the 56 paternal sperm samples were found to exhibit mosaicism of the proband's mutations, with mutant allelic fractions (MAFs) ranging from 0.03% to 39.04%.
-
De novo mutations in SCN1A found in two unrelated patients are associated with classic Rett syndrome.
-
five of these variants promote inclusion of a "poison" exon that leads to reduced amounts of full-length SCN1A protein.
-
The present study demonstrated for the first time that a significant decrease of cerebral glucose metabolism occurred in the fronto-temporo-parietal and occipital cortices along with aging in patients with DS and a SCN1A variant.
-
Study represents the first evidence of the abnormal changes in voltage-gated sodium channels subtypes (including Nav1.1) and CaM/CaMKII pathway in human brain low-grade astrocytoma, providing new potential targets for molecular therapies of this disease.
-
This study reinforces the importance of somatic mosaicism caused by copy number variations in disease-causing genes, and provides an alternative spectrum of SCN1A mutations causative of DS. Somatic deletions in SCN1A should be considered in cases with DS when standard screenings for SCN1A mutations are apparently negative for mutations.
-
The results of this study suggested that SCN1A rs3812718 polymorphism is associated with the risk of epilepsy.
-
Findings support understanding and updating knowledge on the correlation between phenotype distribution and location and type of mutations in SCN1A-related disorders
-
In 13 Han Chinese pedigrees clinically diagnosed with Dravet syndrome, 11 variants were identified in SCN1A gene among 11 pedigrees including 7 missense mutations, 2 splice site mutations, and 2 frameshift mutations (9 novel variants and 2 reported mutations). Particularly, 2 of these Dravet syndrome patients with SCN1A variants also harbored SCN9A, KCNQ2, or SLC6A8 variants.
-
Our cases represent a novel association between SCN1A and sudden infant death syndrome (SIDS), extending the SCN1A spectrum from epilepsy to SIDS.
-
The effect of Ca(2+), domain-specificity, and CaMKII on CaM binding to NaV1.1 has been reported.
-
This first genetic study of Dravet syndrome in Africa confirms that de novo SCN1A variants underlie disease in the majority of South African patients.
-
these data suggest that MDH2, functioning as an RNA-binding protein, is involved in the posttranscriptional downregulation of SCN1A expression under seizure condition.