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FLASH GENE
Symbol KCNC1 contributors: mct - updated : 16-09-2020
HGNC name potassium voltage-gated channel, Shaw-related subfamily, member 1
HGNC id 6233
ASSOCIATED DISORDERS
corresponding disease(s) EPM7
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional germinal mutation     loss of function
KCNC1 loss-of-function variant can present intellectual disability without seizure and epilepsy
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
Kv3.1/Kv3.3-deficient mice display severe sleep loss as a result of unstable slow-wave sleep