De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

Galosi S, Edani B, Martinelli S, Hansikova H, Eklund E, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch D, Ellis C, Amlie-Wolf L, Atallah I, Averdunk L, Baranano K, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek N, Venkateswaran S, Wheeler P, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa W, Lefeber D, Tartaglia M, Hamdan F, Grabinska K and Vincenzo V. De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. Brain. 2021. PubMed