| Entry |
|
| Name |
|
| Type |
Loss of function
|
| Gene |
KCNA1 potassium voltage-gated channel subfamily A member 1 [KO: K04874]
|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
| Variation |
|
| Network |
|
| Disease |
|
| Reference |
|
| Authors |
Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M |
| Title |
Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. |
| Journal |
|
| Reference |
|
| Authors |
Herson PS, Virk M, Rustay NR, Bond CT, Crabbe JC, Adelman JP, Maylie J |
| Title |
A mouse model of episodic ataxia type-1. |
| Journal |
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| LinkDB |
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