Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Laura C. Bott, Mitra Forouhan, Maria Lieto, Ambre J. Sala, Ruth Ellerington, Janel O. Johnson, Alfina A. Speciale, Chiara Criscuolo, Alessandro Filla, David Chitayat, Ebba Alkhunaizi, Patrick Shannon, Andrea H. Nemeth, Francesco Angelucci, Wooi Fang Lim, Pasquale Striano, Federico Zara, Ingo Helbig, Mikko Muona, Carolina CourageAnna Elina Lehesjoki, Samuel F. Berkovic, Kenneth H. Fischbeck, Francesco Brancati, Richard I. Morimoto, Matthew J.A. Wood, Carlo Rinaldi*

*Corresponding author for this work

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Neuroscience

Biochemistry, Genetics and Molecular Biology