Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

van der Knoop, Marieke M.; Maroofian, Reza; Fukata, Yuko; van Ierland, Yvette; Karimiani, Ehsan G.; Lehesjoki, Anna Elina; Muona, Mikko; Paetau, Anders; Miyazaki, Yuri; Hirano, Yoko; Selim, Laila; de Franca, Marina; Fock, Rodrigo Ambrosio; Beetz, Christian; Ruivenkamp, Claudia A. L.; Eaton, Alison J.; Morneau-Jacob, Francois D.; Sagi-Dain, Lena; Shemer-Meiri, Lilach; Peleg, Amir; Haddad-Halloun, Jumana; Kamphuis, Daan J.; Peeters-Scholte, Cacha M. P. C. D.; Kurul, Semra Hiz; Horvath, Rita; Lochmueller, Hanns; Murphy, David; Waldmueller, Stephan; Spranger, Stephanie; Overberg, David; Muir, Alison M.; Rad, Aboulfazl; Vona, Barbara; Abdulwahad, Firdous; Maddirevula, Sateesh; Povolotskaya, Inna S.; Voinova, Victoria Y.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Alkuraya, Fowzan S.; Mefford, Heather C.; Alfadhel, Majid; Haack, Tobias B.; Striano, Pasquale; Severino, Mariasavina; Fukata, Masaki; Hilhorst-Hofstee, Yvonne; Houlden, Henry

dc.contributor.author	Waldmüller, Stephan
dc.contributor.author	Rad, Aboulfazl
dc.contributor.author	Vona, Barbara
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2023-06-07T09:46:44Z
dc.date.available	2023-06-07T09:46:44Z
dc.date.issued	2022
dc.identifier.issn	0006-8950
dc.identifier.uri	http://hdl.handle.net/10900/141966
dc.language.iso	en	en
dc.publisher	Oxford Univ Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1093/brain/awac116
dc.subject.ddc	610	de_DE
dc.subject.ddc	570	de_DE
dc.title	Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy	de_DE
dc.type	Article	de_DE
utue.quellen.id	20230202000000_02127
utue.publikation.seiten	2301-2312	de_DE
utue.personen.roh	van der Knoop, Marieke M.
utue.personen.roh	Maroofian, Reza
utue.personen.roh	Fukata, Yuko
utue.personen.roh	van Ierland, Yvette
utue.personen.roh	Karimiani, Ehsan G.
utue.personen.roh	Lehesjoki, Anna Elina
utue.personen.roh	Muona, Mikko
utue.personen.roh	Paetau, Anders
utue.personen.roh	Miyazaki, Yuri
utue.personen.roh	Hirano, Yoko
utue.personen.roh	Selim, Laila
utue.personen.roh	de Franca, Marina
utue.personen.roh	Fock, Rodrigo Ambrosio
utue.personen.roh	Beetz, Christian
utue.personen.roh	Ruivenkamp, Claudia A. L.
utue.personen.roh	Eaton, Alison J.
utue.personen.roh	Morneau-Jacob, Francois D.
utue.personen.roh	Sagi-Dain, Lena
utue.personen.roh	Shemer-Meiri, Lilach
utue.personen.roh	Peleg, Amir
utue.personen.roh	Haddad-Halloun, Jumana
utue.personen.roh	Kamphuis, Daan J.
utue.personen.roh	Peeters-Scholte, Cacha M. P. C. D.
utue.personen.roh	Kurul, Semra Hiz
utue.personen.roh	Horvath, Rita
utue.personen.roh	Lochmueller, Hanns
utue.personen.roh	Murphy, David
utue.personen.roh	Waldmueller, Stephan
utue.personen.roh	Spranger, Stephanie
utue.personen.roh	Overberg, David
utue.personen.roh	Muir, Alison M.
utue.personen.roh	Rad, Aboulfazl
utue.personen.roh	Vona, Barbara
utue.personen.roh	Abdulwahad, Firdous
utue.personen.roh	Maddirevula, Sateesh
utue.personen.roh	Povolotskaya, Inna S.
utue.personen.roh	Voinova, Victoria Y.
utue.personen.roh	Gowda, Vykuntaraju K.
utue.personen.roh	Srinivasan, Varunvenkat M.
utue.personen.roh	Alkuraya, Fowzan S.
utue.personen.roh	Mefford, Heather C.
utue.personen.roh	Alfadhel, Majid
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Striano, Pasquale
utue.personen.roh	Severino, Mariasavina
utue.personen.roh	Fukata, Masaki
utue.personen.roh	Hilhorst-Hofstee, Yvonne
utue.personen.roh	Houlden, Henry
dcterms.isPartOf.ZSTitelID	Brain	de_DE
dcterms.isPartOf.ZS-Issue	7	de_DE
dcterms.isPartOf.ZS-Volume	145	de_DE
utue.fakultaet	04 Medizinische Fakultät