mProX™ Human KCNA1 Stable Cell Line
- Product Category:
- Membrane Protein Stable Cell Lines
- Subcategory:
- Ion Channel Cell Lines
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Published Data
Fig.1 CRISPRa increases endogenous Kcna1 expression reducing neuronal excitability in vitro.
When testing various combinations of sgRNAs and the most efficient sgRNAs, Kcna1 mRNA expression was normalized to the control LacZ sgRNA in P19 cells. The increase in Kv1.1 and glycosylated Kv1.1 (glyc) in neurons transduced with sgLacZ (blue) or dCas9A and sg19 (red) was measured using Western blots.
Ref: Colasante, Gaia, et al. "In vivo CRISPRa decreases seizures and rescues cognitive deficits in a rodent model of epilepsy." Brain 143.3 (2020): 891-905.
Pubmed: 32129831
DOI: 10.1093/brain/awaa045
Research Highlights
Short bursts of cerebellar ataxia and dysarthria are the hallmarks of episodic ataxia type 1 (EA1), an autosomal dominant K(+) channelopathy that may also exhibit interictal myokymia. Stress on an emotional or physical level, a startle reaction, an abrupt shift in posture, or fever can all cause episodes.
D'Adamo, Maria C., et al. "Novel phenotype associated with a mutation in the KCNA1 (Kv1. 1) gene." Frontiers in physiology 5 (2015): 525.
Pubmed:
25642194
DOI:
10.3389/fphys.2014.00525
This recently discovered mutation is the first known to function in KCNA1 through a recessive mode of inheritance. These results should be interpreted as a warning for the diagnosis of channelopathies, where the identification of causal variations and appropriate therapy selection may be hampered by an undocumented clinical presentation or mode of inheritance for the variant of interest.
Verdura, Edgard, et al. "Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia." Journal of Medical Genetics 57.2 (2020): 132-137.
Pubmed:
31586945
DOI:
10.1136/jmedgenet-2019-106373
