Citations for
1ATP6V0A1, 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
2NEDEBA
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.
Coppola G, Criscuolo C, De Michele G, Striano S, Barbieri F, Striano P, Perretti A, Santoro L, Brescia Morra V, Saccà F, Scarano V, D'Adamo AP, Banfi S, Gasparini P, Santorelli FM, Lehesjoki AE, Filla A.
J Neurol. Aug;252(8):897-900. doi: 10.1007/s00415-005-0766-3. Epub 2005 Mar 8. 2005