| Entry |
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| Name |
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| Type |
Loss of function
|
|---|
| Gene |
GABRB2 gamma-aminobutyric acid receptor subunit beta-2 isoform 1 precursor [KO: K05181]
|
|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
nt06544 Neuroactive ligand signaling |
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| Disease |
| H00606 | Early infantile epileptic encephalopathy |
|
|---|
| Reference |
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|---|
| Authors |
Ishii A, Kang JQ, Schornak CC, Hernandez CC, Shen W, Watkins JC, Macdonald RL, Hirose S |
|---|
| Title |
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy. |
|---|
| 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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