Biallelic and de novo variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Bott L., Forouhan M., Lieto M., Sala A., Ellerington R., Johnson J., Speciale A., Criscuolo C., Filla A., Chitayat D., Nemeth A., Italian Undiagnosed Diseases Network ., Angelucci F., Lim WF., Striano P., Zara F., Helbig I., Muona M., Courage C., Lehesjoki A-E., Berkovic S., V-ATPase Consortium ., Fischbeck K., Brancati F., Morimoto R., Wood MJA., Rinaldi C.

DOI

10.1101/2021.06.01.21257500

Type

Preprint

Publication Date

2021-01-01T00:00:00+00:00

Keywords

Italian Undiagnosed Diseases Network, V-ATPase Consortium

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