 | | VARIANT: 2554v1 | |
| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 [KO: K05175]
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| 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 |
| H00808 | Idiopathic generalized epilepsies |
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| Reference |
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| Authors |
Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM, Carmant L, Verner A, Lu WY, Wang YT, Rouleau GA |
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| Title |
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. |
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| Journal |
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| Reference |
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| Authors |
Steudle F, Rehman S, Bampali K, Simeone X, Rona Z, Hauser E, Schmidt WM, Scholze P, Ernst M |
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| Title |
A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro. |
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| Journal |
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| LinkDB |
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