 | | VARIANT: 2555v1 | |
| Entry |
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| Name |
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| Type |
Loss of function
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| Gene |
GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 [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 |
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| Reference |
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| Authors |
Maljevic S, Keren B, Aung YH, Forster IC, Mignot C, Buratti J, Lafitte A, Freihuber C, Rodan LH, Bergin A, Hubert L, Poirier K, Munnich A, Besmond C, Hauser N, Miller R, McWalter K, Nabbout R, Heron D, Leguern E, Depienne C, Petrou S, Nava C |
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| Title |
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures. |
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| Journal |
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| Reference |
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| Authors |
Edenberg HJ, Dick DM, Xuei X, Tian H, Almasy L, Bauer LO, Crowe RR, Goate A, Hesselbrock V, Jones K, Kwon J, Li TK, Nurnberger JI Jr, O'Connor SJ, Reich T, Rice J, Schuckit MA, Porjesz B, Foroud T, Begleiter H |
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| Title |
Variations in GABRA2, encoding the alpha 2 subunit of the GABA(A) receptor, are associated with alcohol dependence and with brain oscillations. |
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| Journal |
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| LinkDB |
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