| Entry |
|
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| Name |
Mutation-inactivated KCNC3 to transport of potassium
|
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| Definition |
K+ // KCNC3* // K+(extracellular) |
|---|
| Expanded |
C00238 // 3748v1 // C00238 |
|---|
| Class |
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| Type |
Variant
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|---|
| Pathway |
|
|---|
| Disease |
| H00063 | Spinocerebellar ataxia (SCA) |
|
|---|
| Gene |
| 3748 | KCNC3; potassium voltage-gated channel subfamily C member 3 |
|
|---|
| Variant |
3748v1 (KCNC3*) KCNC3 mutation
|
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| Metabolite |
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| Reference |
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| Authors |
Irie T, Matsuzaki Y, Sekino Y, Hirai H |
|---|
| Title |
Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells. |
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| Journal |
|
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| Reference |
|
|---|
| Authors |
Bushart DD, Murphy GG, Shakkottai VG |
|---|
| Title |
Precision medicine in spinocerebellar ataxias: treatment based on common mechanisms of disease. |
|---|
| Journal |
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| LinkDB |
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