Persistent URL of this record https://hdl.handle.net/1887/3561454
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Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
- All authors
- Knoop, M.M. van der; Maroofian, R.; Fukata, Y.; Ierland, Y. van; Karimiani, E.G.; Lehesjoki, A.E.; Muona, M.; Paetau, A.; Miyazaki, Y.; Hirano, Y.; Selim, L.; Franca, M. de; Fock, R.A.; Beetz, C.; Ruivenkamp, C.A.L.; Eaton, A.J.; Morneau-Jacob, F.D.; Sagi-Dain, L.; Shemer-Meiri, L.; Peleg, A.; Haddad-Halloun, J.; Kamphuis, D.J.; Peeters-Scholte, C.M.P.C.D.; Kurul, S.H.; Horvath, R.; Lochmuller, H.; Murphy, D.; Waldmuller, S.; Spranger, S.; Overberg, D.; Muir, A.M.; Rad, A.; Vona, B.; Abdulwahad, F.; Maddirevula, S.; Povolotskaya, I.S.; Voinova, V.Y.; Gowda, V.K.; Srinivasan, V.M.; Alkuraya, F.S.; Mefford, H.C.; Alfadhel, M.; Haack, T.B.; Striano, P.; Severino, M.; Fukata, M.; Hilhorst-Hofstee, Y.; Houlden, H.
- Date
- 2022-07-29
- Journal
- Brain
- Volume
- 145
- Issue
- 7
- Pages
- 2301 - 2312