mProX™ Human SCN8A Stable Cell Line

Product Information

Target Protein

SCN8A

Target Family

Voltage Gated Sodium Channel

Target Protein Species

Human

Host Cell Type

CHO-K1; HEK293

Target Classification

Ion Channel Cell Lines

Target Research Area

Cardiovascular Research; CNS Research

Related Diseases

Myoclonus; Epileptic Encephalopathy

Gene ID

6334

UniProt ID

Q9UQD0

Product Properties

Biosafety Level

Level 1

Activity

Yes

Quantity

10⁶ cells per vial

Applications

One of four voltage-gated sodium channels expressed in the mammalian brain is Nav1.6, which is encoded by SCN8A. Both the central and peripheral nervous systems include Nav1.6, which is mostly expressed in excitatory but also in inhibitory neurons. Previous research has shown that BFIE and DEEs are brought on by missense variants with gain-of-function (GOF) effects, whereas ID, ASD, and movement disorders with or without seizures are brought on by truncating variants, deletions, and some missense variants causing loss-of-function (LOF) or both LOF and GOF effects. Anti-seizure drugs (ASMs) have frequently been ineffective in treating SCN8A-related DEEs, however some patients benefit from treatment with sodium channel blockers (SCBs), particularly high-dose phenytoin. The customized SCN8A stable cell line can be used in antibody discovery and development, potential drug candidate screening and signaling pathway researches.

Protocols

Please visit our protocols page.

Customer Reviews

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FAQ

chat Sharon (Verified Customer)

How do SCN8A antagonists influence neuroblastoma cells? May 08 2022

chat Sherry Smith (Creative Biolabs Scientific Support)

SCN8A antagonists can sensitize neuroblastoma cells to therapeutic differentiation. May 08 2022

chat Deborah (Verified Customer)

Where is the SCN8A expressed ? Jul 11 2021

chat Sherry Smith (Creative Biolabs Scientific Support)

Both the central and peripheral nervous systems include Nav1.6, which is mostly expressed in excitatory but also in inhibitory neurons. Jul 11 2021

Published Data

Fig.1 Changes in transient and INa,P density in Scn8aN1768D/+ neurons.

Representative, normalized INa traces in CA1 bipolar or pyramidal neurons from mice with the Scn8aN1768D/+ (gray) or WT (black) mutation. (A) Bright field picture of a bipolar neuron representative (Upper); immunostaining demonstrates that neurons with bipolar morphology that are MAP2-positive also have GAD67 positivity (Lower). (B) A pyramidal neuron's representative bright field picture.

Ref: Lopez-Santiago, Luis F., et al. "Neuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy." Proceedings of the National Academy of Sciences 114.9 (2017): 2383-2388.

Pubmed: 28193882

DOI: 10.1073/pnas.1616821114

Research Highlights

Multiple types of seizures, including focal seizures and spasms in certain circumstances, are present in infants with SCN8A encephalopathy. The result is frequently subpar and involves mobility abnormalities and hypotonia.
Larsen, Jan, et al. "The phenotypic spectrum of SCN8A encephalopathy." Neurology 84.5 (2015): 480-489.
Pubmed: 25568300 DOI: 10.1212/WNL.0000000000001211