| 1 | ATP6V0A1, DEE104 |
| Structural and functional understanding of disease-associated mutations in V-ATPase subunit a1 and other isoforms | |
| Indrawinata K, Argiropoulos P, Sugita S. | |
| Front Mol Neurosci. Jul 3;16:1135015. doi: 10.3389/fnmol.2023.1135015. 2023 | |
| 2 | ATP6V0A1, DEE104, NEDEBA |
| Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy. | |
| Bott LC, Forouhan M, Lieto M, Sala AJ, Ellerington R, Johnson JO, Speciale AA, Criscuolo C, Filla A, Chitayat D, Alkhunaizi E, Shannon P, Nemeth AH; Italian Undiagnosed Diseases Network; Angelucci F, Lim WF, Striano P, Zara F, Helbig I, Muona M, Courage C, Lehesjoki AE, Berkovic SF; ATPase Consortium; Fischbeck KH, Brancati F, Morimoto RI, Wood MJA, Rinaldi C. | |
| Brain Commun. Oct 18;3(4):fcab245. doi: 10.1093/braincomms/fcab245. 2021 | |