Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
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Query: UMLS:C0027066 (
myoclonus
)
4,275
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Progressive
myoclonus
epilepsies (PMEs) constitute a cluster of inherent, genetically diverse, rare seizure disorders characterized by ataxia, tonic-clonic seizures, and action
myoclonus
. Recently, a mutation in the KCNC1 gene (Arg320His) was described in a group of PME patients. The KCNC1 gene encodes the K
v
3.1
potassium ion channel
responsible for the rapid repolarization of the membrane potential following action potential firing in fast spiking GABAergic interneurons (FSI), thereby enabling high firing frequency. In the present study, we demonstrate that the Arg320His mutation cause a reduction in the K
v
3.1 current amplitude and acts in a dominantly negative fashion. The mutation profoundly affects channel activation and deactivation kinetics, and we further find that it impairs recruitment of the K
v
3.1 channel to the plasma membrane. The K
v
3 activating compound, RE01, partly rescues the electrophysiological deficit, suggesting that pharmacological activation of K
v
3.1 activity might be a feasible approach for treatment of this cohort of PME patients.
...
PMID:Pharmacological rescue of mutated K
v
3.1 ion-channel linked to progressive myoclonus epilepsies. 2989 24
