mProX™ Human KCNQ2 Stable Cell Line
- Product Category:
- Membrane Protein Stable Cell Lines
- Subcategory:
- Ion Channel Cell Lines
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Published Data
Fig.1 Heterologous expression of KCNQ2-R581Q.
Left: voltage pulse step procedure and transfection approach. Middle: Automated patch-clamp recording of average XE-991-sensitive whole-cell currents normalized by membrane capacitance. KCNQ3-expressing CHO-K1 cells were transiently transfected with R581Q (10 µg) plus wild-type KCNQ2 or wild-type KCNQ2 to simulate the heterozygous condition (bottom) or with wild-type KCNQ2 or R581Q variant to recapitulate a homozygous state (top).
Ref: Simkin, Dina, et al. "Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy." Elife 10 (2021): e64434.
Pubmed: 33544076
DOI: 10.7554/eLife.64434
Research Highlights
Early onset epileptic encephalopathies and benign seizure disorders are also included in the group of KCNQ2-related illnesses. Patients in the latter category, in particular, experience developmental delay and seizures that are resistant to common antiepileptic medications. There are few systematic data on therapy responses in KCNQ2 associated epilepsy in bigger cohorts, which is concerning given the hope of customized pharmacological methods to treat the enormous number of hereditary channelopathies that have recently been discovered.
Kuersten, M., et al. "Antiepileptic therapy approaches in KCNQ2 related epilepsy: a systematic review." European Journal of Medical Genetics 63.1 (2020): 103628.
Pubmed:
30771507
DOI:
10.1016/j.ejmg.2019.02.001
In addition to being therapeutic targets for neurological and neuropsychiatric disorders, KCNQ2 and KCNQ3 channels are linked to a number of neurodevelopmental abnormalities.
Soh, Heun, et al. "KCNQ2 and KCNQ5 form heteromeric channels independent of KCNQ3." Proceedings of the National Academy of Sciences 119.13 (2022): e2117640119.
Pubmed:
35320039
DOI:
10.1073/pnas.2117640119