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The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, mainly in nerve and muscle. Additionally we are shipping Nucleus Accumbens Associated 1, BEN and BTB (POZ) Domain Containing Antibodies (92) and many more products for this protein.
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The results further substantiate the contribution of SCN1A (show SCN1A Proteins) in response and therapy optimization with PHT monotherapy.
Rather than a single common gene/variant modifying clinical outcome in SCN1A (show SCN1A Proteins)-related epilepsies, our results point to the cumulative effect of rare variants with little to no measurable phenotypic effect (i.e., typical genetic background) unless present in combination with a disease-causing truncation mutation in SCN1A (show SCN1A Proteins).
genetic variants in 3'UTR of SCN1A (show SCN1A Proteins)
Among these transmissions were two likely disease-causing mutations: an SCN1A mutation transmitted to an SUDC proband and her sibling with Dravet syndrome, as well as an SLC6A1 mutation in a proband with epileptic encephalopathy.
study presents a phenotype-genotype correlation for SCN1A (show SCN1A Proteins); described a distinct SCN1A (show SCN1A Proteins) phenotype, early infantile SCN1A (show SCN1A Proteins) encephalopathy, which is readily distinguishable from the Dravet syndrome and genetic epilepsy with febrile seizures plus
This study demonstrated that early-life prolonged FSs have a profound long-term impact on neuronal function and adult seizure phenotypes in a mouse model of human SCN1A (show SCN1A Proteins) dysfunction.
this study showed that SCN1A (show SCN1A Proteins) testing be considered in all individuals with febrile seizures or Dravet syndrome , as well as in familial cases consistent with febrile seizures.
This study found significant differences in the distribution of truncating and missense variants across the SCN1A (show SCN1A Proteins) sequence among healthy individuals, patients with Dravet syndrome.
SCN1A (show SCN1A Proteins) mutations may alter axonal function, causing motor neuropathy/neuronopathy. This may contribute to gait disturbance and orthopedic misalignment, which is characteristic of patients with Dravet syndrome.
The association study indicated that age at first seizure and frameshift mutations of SCN1A (show SCN1A Proteins) were associated with Dravet syndrome.
a sub-network of four factors, Nac1, Oct4 (show POU5F1 Proteins), Tcf3 (show TCF7L1 Proteins), and Sox2 (show SOX2 Proteins), regulates mouse embryonic stem cell differentiation into the alternative mesendodermal and neuroectodermal fates.
The interaction of Nac1 with Miz1 (show PIAS2 Proteins) may thus be relevant to its mechanism of tumourigenesis in ovarian cancer.
NAC1 participates in the motility and differentiation of developing chondrocytes and cartilaginous tissues, and its expression is necessary to maintain normal axial patterning of murine skeleton.
The mouse Nac1 gene consist of six exons, with exon 2 containing an alternative splice donor, providing a molecular explanation of the splice variants observed in mouse and rat.
these data indicate involvement of NAC1 in the acute behavioral and neurochemical responses to psychomotor stimulants
Nanog (show NANOG Proteins) interacts with Nac1 through WNAAP to regulate the cell cycle of stem cells via the ERas/phosphatidylinositol 3-kinase/Akt (show AKT1 Proteins) pathway, but not pluripotency
The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, mainly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit, and two smaller auxiliary beta subunits. This gene encodes the large alpha subunit, and mutations in this gene have been associated with several epilepsy, convulsion and migraine disorders. Alternative splicing results in multiple transcript variants. The RefSeq Project has decided to create four representative RefSeq records. Three of the transcript variants are supported by experimental evidence and the fourth contains alternate 5' untranslated exons, the exact combination of which have not been experimentally confirmed for the full-length transcript.
BEN domain containing 8
, BTB/POZ domain-containing protein 14B
, nucleus accumbens-associated protein 1
, transcriptional repressor NAC1
, nucleus accumbens associated 1, BEN and BTB (POZ) domain containing
, BTB (POZ) domain containing 14B
, nucleus accumbens-1
, sodium channel protein type 1 subunit alpha
, sodium channel protein type I subunit alpha
, sodium channel protein, brain I alpha subunit
, sodium channel voltage gated type 1 alpha subunit
, sodium channel, voltage-gated, type I, alpha polypeptide
, voltage-gated sodium channel subunit alpha Nav1.1