anti-Sodium Channel, Voltage-Gated, Type II, alpha Subunit (SCN2A) Antikörper

Mouse (Murine) Sodium Channel, Voltage-Gated, Type II, alpha Subunit (SCN2A) Interaktionspartner

1. Scn2aKO/+ mice exhibit a spectrum of phenotypes commonly observed in models of schizophrenia and autism spectrum disorder.

2. We report that mice heterozygous for the gene Scn2a, a site of frequent de novo mutations in humans with intellectual disability, displayed impaired spatial memory.

3. NaV1.2 in granule cells of the olfactory bulb is crucial for physiological dendritic GABA release and rapid discrimination of similar odorants with high accuracy.

4. The findings suggest that impaired cortico-striatal excitatory transmission is a plausible mechanism that triggers epilepsy in Stxbp1 and Scn2a haplodeficient mice.

5. in the absence of Nav1.6 expression, the AIS is occupied by Nav1.2 channels. However, APs are generated in the AIS, and differences in AP propagation to soma and dendrites are minimal.

6. This study demonstrated that brain-specific Nav subunits revealed the expression of Nav 1.2 by most substantia nigra dopaminergic neurons.

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. Inhibitory postsynaptic currents in NaV1.2 adult neurons were larger and the expression level of Scn2a mRNA was lower compared with the wild-type.

9. Reducing of NaV1.2-mediated currents in interneurons promoted recurrent network activity.

10. interaction with Sin3B influences Na(v)-channel trafficking or stability in the membrane.

11. Nav1.2 expression levels are elevated in the brain of sodium channel blocker-treated animamls with experimental autoimmune encephalomyelitis.

12. The present findings show a polarised distribution of Na(v)1.2 along the neuronal surface of granule cells and suggest its primary involvement in the transmission of information from granule cells to Purkinje cells.

13. Immunohistochemical stainings of mouse cerebellum with a NaV1.2-specific antibody revealed a prominent increase in staining of the molecular layer during postnatal development.

14. However, Na(v)1.2 channels show a greater accumulation of inactivation at higher frequencies of stimulation (20-100 Hz) than Na(v)1.6 and thus are likely to generate lower frequencies of firing.

15. Nav channels generate and regenerate action potentials at multiple sites along the cochlear ganglion cells and nerve fibers, including the afferent endings, ganglionic initial segments, and nodes of Ranvier

16. Genetic modifiers affect the severity of epilepsy caused by mutation of sodium channel Scn2a.

17. an electrically induced signal can propagate along the vessel axis via the endothelium and can induce sequential activation of Na(v) and Ca(v)3.2 channels.

18. The data support the hypothesis that modified Scn2a channels in Q54 mice result in network hyperexcitability of the hippocampus necessary for the development and maintenance of temporal lobe seizures.

19. The results are consistent with a model in which Na(v)1.6 and Na(v)1.2 compete for binding partners at sites of high channel density

20. SCN2A, SCN3A, and SCN9A are expressed beneath tight junctions in subsets of taste cells. SCN3A and SCN9A are expressed in TRPM5 cells, while SCN2A was expressed in TRPM5 and PKD2L1 cells.

Human Sodium Channel, Voltage-Gated, Type II, alpha Subunit (SCN2A) Interaktionspartner

1. 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.

2. This study reports the cryo-electron microscopy structure of human Nav1.2 bound to a peptidic pore blocker, the mu-conotoxin KIIIA, in the presence of an auxiliary subunit, beta2, to an overall resolution of 3.0 angstroms.

3. Our study describes the heterogeneous clinical spectrum of SCN2A-associated episodic ataxia

4. This study aimed to explore the connection between the 10-hydroxycarbazepine concentration and genes such as ATP-binding cassette B1 (ABCB1), ATP-binding cassette C2 (ABCC2), UDP-glucuronosyltransferase-2B7 and sodium voltage-gated channel alpha subunit 2 (SCN2A), which participate in the antiepileptic function of oxcarbazepine

5. The clinical features of patients with SCN2A mutations include that main seizure onset is the neonate and early infancy, and the main seizure type is the focal seizure, manifested in clusters; de novo mutations often lead to severe phenotype with development delay.

6. Chinese family with Juvenile-onset Myoclonus and a novel SCN2A point mutation, c.T4820C, which contains a highly conserved amino acid substitution within segment S5 (p.V1607A) was reported.

7. Study represents the first evidence of the abnormal changes in voltage-gated sodium channels subtypes (including Nav1.2) and CaM/CaMKII pathway in human brain low-grade astrocytoma, providing new potential targets for molecular therapies of this disease.

8. analysis of how ion permeation of Nav1.2 involves complexation with carboxylates and lysine

9. Review: Dysfunction in SCN2A has been recently recognized as a major cause of neurodevelopmental disorders (NDDs), including epilepsy, intellectual disability (ID), and autism spectrum disorder (ASD). Loss of NaV1.2 function contributes to ASD and ID, whereas gain of function contributes to early onset epilepsy. Sodium channel function can be enhanced or suppressed using pharmacology.

10. SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures

11. We utilized a targeted next generation sequencing (NGS) approach on a girl with early-onset seizures and Rett-like features, including autistic behavior, limited hand function with chorea, and profound intellectual disability, to identify novel missense mutation (c.1270G>A; p.V424M) in the SCN2A gene, which encodes the alphaII-subunit of the voltage-gated Na+ channel (Nav1.2).

12. SCN2A autism spectrum disorder (ASD)-associated variants dampened or eliminated channel function in transfected HEK293 cells. A compartmental model of developing excitatory neurons demonstrated that all ASD variants, regardless of their mechanism of action, resulted in deficits in neuronal excitability. Corresponding analysis of mature neurons predicted minimal change in neuronal excitability.

13. clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy.

14. The most frequently mutated gene in early-onset seizure and severe developmental delay disorders was SCN2A (11 patients, 3%), occurring de novo in all patients.

15. Pathogenic, likely pathogenic, and benign variants in SCNs were identified using databases of sodium channel variants. Benign variants were also identified from population-based databases. Eight algorithms commonly used to predict pathogenicity were compared. In addition, logistic regression was used to determine if a combination of algorithms could better predict pathogenicity.

16. Data indicate eight new cases with overlapping duplications at 2q24 and SCN3A was not involved in duplication, suggesting that having an extra copy of SCN2A has an effect on epilepsy pathogenesis.

17. This study demonstrated the association of SCN2A rs1864885 A > G, in Japanese childhood encephalopathy patients.

18. Our findings broaden the clinical spectrum observed with SCN2A gain-of-function mutations, showing that fairly different biophysical mechanisms can cause a convergent clinical phenotype of neonatal seizures and later onset episodic ataxia.

19. We argue that very rare, loss-of-function mutations at SCN2A act in a moderately penetrant manner to increase the risk of developing several neuropsychiatric disorders including seizure disorders, intellectual disability, autism and schizophrenia.

20. Mutations in SCN1A and SCN2A are a predisposing factor of acute encephalopathy with biphasic seizures and late reduced diffusion