| Entry |
|
|---|
| Name |
|
|---|
| Type |
Loss of function
|
|---|
| Gene |
GABRB3 gamma-aminobutyric acid type A receptor subunit beta3 [KO: K05181]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
|---|
| Variation |
|
|---|
| Network |
nt06544 Neuroactive ligand signaling |
|---|
| Disease |
| H00606 | Early infantile epileptic encephalopathy |
| H02215 | Childhood absence epilepsy |
|
|---|
| Reference |
|
|---|
| Authors |
Janve VS, Hernandez CC, Verdier KM, Hu N, Macdonald RL |
|---|
| Title |
Epileptic encephalopathy de novo GABRB mutations impair gamma-aminobutyric acid type A receptor function. |
|---|
| Journal |
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|---|
| Reference |
|
|---|
| Authors |
Feng Y, Wei ZH, Liu C, Li GY, Qiao XZ, Gan YJ, Zhang CC, Deng YC |
|---|
| Title |
Genetic variations in GABA metabolism and epilepsy. |
|---|
| Journal |
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|---|
| LinkDB |
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