| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
KCNQ2 potassium voltage-gated channel subfamily Q member 2 [KO: K04927]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
|
|---|
| Disease |
| H00606 | Early infantile epileptic encephalopathy |
| H00806 | Benign familial neonatal seizure |
|
|---|
| Reference |
|
|---|
| Authors |
Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, Steinlein OK |
|---|
| Title |
A potassium channel mutation in neonatal human epilepsy. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Yang GM, Tian FY, Shen YW, Yang CY, Yuan H, Li P, Gao ZB |
|---|
| Title |
Functional characterization and in vitro pharmacological rescue of KCNQ2 pore mutations associated with epileptic encephalopathy. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
