anti-Sodium Channel, Voltage-Gated, Type I, alpha Subunit (SCN1A) Antibodies

Mouse (Murine) Sodium Channel, Voltage-Gated, Type I, alpha Subunit (SCN1A) interaction partners

1. Scn1a transgenic mice exhibit epileptic seizures, impaired social recognition and altered spatial memory.

2. The efficacy of interneuron transplantation and the function of transplanted cells in an Alzheimer's disease model depend on their Nav1.1 brain levels.

3. these data suggest that MDH2, functioning as an RNA-binding protein, is involved in the posttranscriptional downregulation of SCN1A expression under seizure condition.

4. Rer1 controls the assembly and transport of Nav1.1 and 1.6, the principal sodium channels responsible for recurrent firing, in Purkinje cells.

5. selective activation of NaV1.1 by venom peptide Hm1a restores the function of inhibitory interneurons from Dravet syndrome mice without affecting the firing of excitatory neurons.

6. Scn1a was mapped to the QTL for febrile seizure susceptibility.

7. results therefore indicate that, while Nav1.1 is expressed in MEG-derived inhibitory neurons, Nav1.2 is expressed in caudal ganglionic eminence-derived disinhibitory interneurons in addition to excitatory neurons

8. Pharmological manipulation by clobazam, a common anticonvulsant with preferential affinity for the GABRA2 receptor, revealed dose-dependent protection against hyperthermia-induced seizures in Scn1a+/- mice. These findings support Gabra2 as a genetic modifier of the Scn1a+/- mouse model of Dravet syndrome.

9. In this study, we characterized the behavior of heterozygous mice expressing the SCN1A R1648H mutation (Scn1a(RH/+)) and the effect of stress on spontaneous and induced seizures. We also examined the effect of the R1648H mutation on the hypothalamic-pituitary-adrenal (HPA) axis response.

10. findings establish an unexpected role for Nav1.1 channels in regulating the excitability of sensory nerve fibres that mediate mechanical pain

11. Deletion of Nav1.1 channels selectively impairs excitability of GABAergic interneurons

12. the time course of declining expression of the murine embryonic sodium channel Nav 1.3 and the rise in expression of the adult sodium channel Nav 1.1 with susceptibility to epileptic seizures and increased incidence of sudden death

13. Results show Nav1.1 haploinsufficiency in excitatory neurons has an ameliorating effect on the pathology of Dravet syndrome.

14. These data indicate that a disease-causing central nervous system voltage-gated sodium channel mutation confers susceptibility to the proconvulsant, but not motoric, effects of cocaine.

15. These results establish a direct role for SCN1A in the regulation of sleep

16. Loss of NaV1.1 channels in forebrain GABAergic neurons is both necessary and sufficient to cause epilepsy and premature death in Dravet syndrome.

17. mice with Scn1a haploinsufficiency exhibit hyperactivity, stereotyped behaviours, social interaction deficits and impaired context-dependent spatial memory; results demonstrate a critical role for Na(V)1.1 channels in neuropsychiatric functions and provide a potential therapeutic strategy for cognitive deficit and autism-spectrum behaviours in Dravet's syndrome

18. These results demonstrate increased expression levels of Nav1.7, Nav1.8, and perhaps Nav1.1 in the dorsal root ganglia in mice with a heterozygous mutation of the Nf1 gene

19. Na(V)1.1 channels are expressed in the suprachiasmatic nucleus (SCN) of the hypothalamus.

20. a mechanism consistent with BACE1 activity regulating mRNA levels of the alpha-subunit Na(v)1.1 via cleavage of cell-surface Na(v)beta(2).

Human Sodium Channel, Voltage-Gated, Type I, alpha Subunit (SCN1A) interaction partners

1. 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.

2. We have shown that mutations in CACNA1A, ATP1A2 and SCN1A are not the major cause of the disease in Finnish hemiplegic migraine patients

3. 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.

4. Polymorphisms of rs3812718 of the SCN1A gene is associated with carbamazepine resistance among ethnic Zhuang Chinese epilepsy patients from Baise region

5. 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.

6. SCN1A mutations may be involved in focal epilepsy with auditory features within the GEFS+ spectrum.

7. 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.

8. 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%.

9. De novo mutations in SCN1A found in two unrelated patients are associated with classic Rett syndrome.

10. five of these variants promote inclusion of a "poison" exon that leads to reduced amounts of full-length SCN1A protein.

11. 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.

12. 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.

13. 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.

14. The results of this study suggested that SCN1A rs3812718 polymorphism is associated with the risk of epilepsy.

15. Findings support understanding and updating knowledge on the correlation between phenotype distribution and location and type of mutations in SCN1A-related disorders

16. 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.

17. Our cases represent a novel association between SCN1A and sudden infant death syndrome (SIDS), extending the SCN1A spectrum from epilepsy to SIDS.

18. The effect of Ca(2+), domain-specificity, and CaMKII on CaM binding to NaV1.1 has been reported.

19. This first genetic study of Dravet syndrome in Africa confirms that de novo SCN1A variants underlie disease in the majority of South African patients.

20. these data suggest that MDH2, functioning as an RNA-binding protein, is involved in the posttranscriptional downregulation of SCN1A expression under seizure condition.