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Mammalian Monoclonal SCN8A Primary Antibody für ISt, IHC - ABIN1304841
Rush, Wittmack, Tyrrell, Black, Dib-Hajj, Waxman: Differential modulation of sodium channel Na(v)1.6 by two members of the fibroblast growth factor homologous factor 2 subfamily. in The European journal of neuroscience 2006
Show all 35 Pubmed References
Human Monoclonal SCN8A Primary Antibody für IF, ELISA - ABIN520023
Ogiwara, Miyamoto, Morita, Atapour, Mazaki, Inoue, Takeuchi, Itohara, Yanagawa, Obata, Furuichi, Hensch, Yamakawa: Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. in The Journal of neuroscience : the official journal of the Society for Neuroscience 2007
Study represents the first evidence of the abnormal changes in voltage-gated sodium channels subtypes (including Nav1.8) and CaM/CaMKII pathway in human brain low-grade astrocytoma, providing new potential targets for molecular therapies of this disease.
These results expand the range of SCN8A variants in epileptic encephalopathy patients and illustrate the necessity of ongoing reanalysis of negative exome sequences, as advances in the knowledge of disease genes and their annotations will permit new diagnoses to be made.
Authors introduced mutations into Nav1.7 and Nav1.6 that either enhance or impair slow inactivation (SI) in order to investigate their effects on resurgent currents. The results show that enhanced SI is accompanied by impaired resurgent currents, which suggests that SI may interfere with open-channel block.
Study reports several novel variants in SCN8A that were identified by gene panel analysis in patients with epilepsy and other neurodevelopmental disorders. The predominant pathogenic mechanism appears to involve disruption of channel inactivation, leading to gain-of-function effects.
SCN8A mutation is not only associated with epileptic encephalopathy, but also can be the pathogenic cause of some benign phenotypes, such as BFIS/ICCA, especially the inherited mutations.
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.
This study demonstrated that SCN8A - I1327V is a gain-of-function mutation with altered features that are predicted to increase neuronal excitability and seizure susceptibility. Phenytoin is an effective inhibitor of the mutant channel and may be of use in treating patients with gain-of-function mutations of SCN8A.
Epilepsy-associated mutations in the voltage-gated sodium channel Nav1.6, but not Nav1.1, upregulate resurgent currents; cannabidiol preferentially targets these currents.
Either the FGF14(V160A) or the FGF14(K74A/I76A) mutation was sufficient to abolish the FGF14-dependent regulation of peak transient Na(+) currents and the voltage-dependent activation and steady-state inactivation of Nav1.6; but only V160A with a concomitant alanine mutation at Tyr-158 could impede FGF14-dependent modulation of the channel fast inactivation.
we report an infant and his father with early onset focal epileptic seizures but without cognitive or neurological impairment in whom next generation sequence analysis identified a heterozygous mutation (c.5630A > G, p. (Asn1877Ser)) in the SCN8A gene
the calpain-dependent cleavage of Nav1.6 channels expressed in human embryonic kidney (HEK) 293 cells caused the upregulation of I(NaP)
Our study establishes SCN8A as a novel gene in which a recurrent mutation causes BFIS/ICCA, expanding the clinical-genetic spectrum of combined epileptic and dyskinetic syndromes.
Human Nav1.6 channels generate larger resurgent currents than human Nav1.1 channels, but the SCN4B-derived Navbeta4 peptide does not protect either isoform from use-dependent reduction.
These data strengthen previous findings linking gain-of-function mutations of SCN8A with EIEE and demonstrate the importance of functional testing in establishing the pathogenicity of de novo mutations.
Expression profiling of SCN8A and NDUFC2 genes in colorectal carcinoma is reported. There was no NDUFC2 differential expression in colorectal carcinoma.
Epileptic encephalopathy related to mutations in the SCN8A genes.
SCN8A encephalopathy presents in infancy with multiple seizure types.
The results of this study suggested that SCN8A mutation cause early onset epilepsy and intellectual disability.
identified the PI3K/Akt pathway, the cell-cycle regulator Wee1 kinase, and protein kinase C (PKC) as prospective regulatory nodes of neuronal excitability through modulation of the FGF14:Nav1.6 complex.
Data support the contribution of gain-of-function mutations of Nav1.6 (de novo variant p.Thr767Ile) that increase excitatory pyramidal neuron excitability
we demonstrated that a selective reduction in Scn8a can dramatically protect against the development of spontaneous seizures, hyperactivity, and reactive gliosis in a mouse model of MTLE.
Rer1 controls the assembly and transport of Nav1.1 and 1.6, the principal sodium channels responsible for recurrent firing, in Purkinje cells.
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.
Therefore, APP modulates Nav1.6 sodium channels through a Go-coupled JNK pathway, which is dependent on phosphorylation of APP at Thr668.
The results demonstrate that Scn8a plays a vital role in neuronal excitability and provide insight into the mechanism and future treatment of epileptogenesis in early infantile epileptic encephalopathy.
Nav1.6 expression at mRNA levels in ischemic and contralateral hemispheres of middle cerebral artery occlusion (MCAO) rats were persistently decreased after reperfusion compared to sham-operated rat, but a prominent, dynamic increase of Nav1.6 immunoreactivity in reactive astrocytes was observed in the genu of corpus callosum in the acute phase. Upregulation of Nav1.6 expression strongly correlated with astrogliosis.
Differential distribution in primary sensory endings suggests specialized roles for these three NaV isoforms in the process of mechanosensory signaling by muscle spindles.
that loss of Scn8a leads to altered thalamic reticular nucleus cell intrinsic excitability and a failure in recurrent RT synaptic inhibition
The data of this study support the view that gain-of-function mutations of SCN8A lead to pathogenic alterations in brain function contributing to encephalopathy.
The clinical phenotype of the severe hypomorphic sodium channel gene SCN8A mutant expands the spectrum of Scn8a disease to include a recessively inherited, chronic and progressive movement disorder.
the presences of Nav1.1, Nav1.6, Navbeta1 and Navbeta3 mRNA and their reduced levels in rat SAN during aging.
This study demonstrates that Nav channel expression in lumbar motoneurons is altered after SCI, and it shows a tight relationship between the calpain-dependent proteolysis of Nav1.6 channels, the upregulation of I(NaP) and spastici
the role of Nav1.6 in general anesthesia using two mouse mutants with reduced activity of Nav1.6, was examined.
observed increased hippocampal pyramidal cell excitability in heterozygous and homozygous Scn8a-R1627H mutants, and decreased interneuron excitability in heterozygous Scn8a-R1627H mutants.
The data support a model where ankyrinG-binding is required for preferential Nav1.6 insertion into the axon initial segment plasma membrane during development.
the degenerating muscle mutation is a loss of function mutation of scn8a
N1768D mutation of SCN8A is sufficient to induce seizures and SUDEP in knock-in mice.
APP enhances Nav1.6 sodium channel cell surface expression through a Go-coupled JNK pathway
This study provided evidence for a direct link between sodium channel activity and modulation of Rac1 and ERK1/2 activation in ATP-stimulated microglia, possibly by regulating Ca(2+) transients
results identify the hippocampus as an important structure in the mediation of Scn8a-dependent seizure protection and suggest that selective targeting of Scn8a activity might be efficacious in patients with epilepsy.
This gene encodes a member of the sodium channel alpha subunit gene family. The encoded protein forms the ion pore region of the voltage-gated sodium channel. This protein is essential for the rapid membrane depolarization that occurs during the formation of the action potential in excitable neurons. Mutations in this gene are associated with mental retardation, pancerebellar atrophy and ataxia. Alternate splicing results in multiple transcript variants.
hNa6/Scn8a voltage-gated sodium channel
, sodium channel protein type 8 subunit alpha
, voltage-gated sodium channel subunit alpha Nav1.6
, Na+ channel
, peripheral nerve protein type 4
, sodium channel 6
, sodium channel protein type VIII subunit alpha
, sodium channel voltage-gated type VIII alpha polypeptide
, sodium channel, voltage-gated, type 8, alpha polypeptide
, sodium channel, voltage-gated, type 8, alpha subunit
, sodium channel, voltage-gated, type VIII, alpha polypeptide
, ataxia 3