Symbol
| KCNC1
| contributors: mct - updated : 16-09-2020
|
HGNC name
| potassium voltage-gated channel, Shaw-related subfamily, member 1
|
HGNC id
| 6233
|
corresponding disease(s)
|
EPM7
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
| germinal mutation
|  
|  
| loss of function
|
KCNC1 loss-of-function variant can present intellectual disability without seizure and epilepsy | |
Variant & Polymorphism
|
| |
Candidate gene
Marker
Therapy target
| | | |
| Kv3.1/Kv3.3-deficient mice display severe sleep loss as a result of unstable slow-wave sleep |