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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.
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 (Montrer SCN1A Kits ELISA), upregulate resurgent currents; cannabidiol preferentially targets these currents.
Either the FGF14 (Montrer FGF14 Kits ELISA)(V160A) or the FGF14 (Montrer FGF14 Kits ELISA)(K74A/I76A) mutation was sufficient to abolish the FGF14 (Montrer FGF14 Kits ELISA)-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 (Montrer TYR Kits ELISA)-158 could impede FGF14 (Montrer FGF14 Kits ELISA)-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 (Montrer SCN1A Kits ELISA) channels, but the SCN4B (Montrer SCN4B Kits ELISA)-derived Navbeta4 (Montrer SCN4B Kits ELISA) 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.
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 (Montrer SCN1A Kits ELISA), 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 (Montrer CTNNBL1 Kits ELISA)) 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 (Montrer ANK3 Kits ELISA)-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
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