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anti-Human SCN8A Antikörper:
anti-Rat (Rattus) SCN8A Antikörper:
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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
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 (zeige SCN9A Antikörper) 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 (zeige PRRT2 Antikörper), especially the inherited mutations.
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 (zeige SCN1A Antikörper), upregulate resurgent currents; cannabidiol preferentially targets these currents.
Either the FGF14 (zeige FGF14 Antikörper)(V160A) or the FGF14 (zeige FGF14 Antikörper)(K74A/I76A) mutation was sufficient to abolish the FGF14 (zeige FGF14 Antikörper)-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 (zeige TYR Antikörper)-158 could impede FGF14 (zeige FGF14 Antikörper)-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 (zeige PRRT2 Antikörper), expanding the clinical-genetic spectrum of combined epileptic and dyskinetic syndromes.
in the absence of Nav1.6 expression, the AIS (zeige AR Antikörper) is occupied by Nav1.2 (zeige SCN2A Antikörper) channels. However, APs (zeige SH2B2 Antikörper) are generated in the AIS (zeige AR Antikörper), and differences in AP propagation to soma and dendrites are minimal.
Therefore, APP (zeige APP Antikörper) modulates Nav1.6 sodium channels through a Go-coupled JNK (zeige MAPK8 Antikörper) pathway, which is dependent on phosphorylation of APP (zeige APP Antikörper) 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.
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 (zeige SCN1A Antikörper), 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 (zeige CTNNBL1 Antikörper)) and spastici
the role of Nav1.6 in general anesthesia using two mouse mutants with reduced activity of Nav1.6, was examined.
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