Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Scala, Marcello; Wortmann, Saskia B.; Kaya, Namik; Stellingwerff, Menno D.; Pistorio, Angela; Glamuzina, Emma; van Karnebeek, Clara D.; Skrypnyk, Cristina; Iwanicka-Pronicka, Katarzyna; Piekutowska-Abramczuk, Dorota; Ciara, Elzbieta; Tort, Frederic; Sheidley, Beth; Poduri, Annapurna; Jayakar, Parul; Jayakar, Anuj; Upadia, Jariya; Walano, Nicolette; Haack, Tobias B.; Prokisch, Holger; Aldhalaan, Hesham; Karimiani, Ehsan G.; Yildiz, Yilmaz; Ceylan, Ahmet C.; Santiago-Sim, Teresa; Dameron, Amy; Yang, Hui; Toosi, Mehran B.; Ashrafzadeh, Farah; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh S.; Maqbool, Shazia; Farid, Aisha; Al-Muhaizea, Mohamed A.; Alshwameen, Meznah O.; Aldowsari, Lama; Alsagob, Maysoon; Alyousef, Ashwaq; AlMass, Rawan; AlHargan, Aljouhra; Alwadei, Ali H.; AlRasheed, Maha M.; Colak, Dilek; Alqudairy, Hanan; Khan, Sameena; Lines, Matthew A.; Cazorla, M. Angeles Garcia; Ribes, Antonia; Morava, Eva; Bibi, Farah; Haider, Shahzad; Ferla, Matteo P.; Taylor, Jenny C.; Alsaif, Hessa S.; Firdous, Abdulwahab; Hashem, Mais; Shashkin, Chingiz; Koneev, Kairgali; Kaiyrzhanov, Rauan; Efthymiou, Stephanie; Genomics, Queen Square; Schmitt-Mechelke, Thomas; Ziegler, Andreas; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Striano, Pasquale; Alkuraya, Fowzan S.; Zaki, Maha S.; Gleeson, Joseph G.; Barakat, Tahsin Stefan; Bierau, Jorgen; van der Knaap, Marjo S.; Maroofian, Reza; Houlden, Henry

dc.contributor.author	Haack, Tobias
dc.date.accessioned	2023-02-07T10:53:59Z
dc.date.available	2023-02-07T10:53:59Z
dc.date.issued	2022
dc.identifier.issn	1059-7794
dc.identifier.uri	http://hdl.handle.net/10900/136298
dc.language.iso	en	de_DE
dc.publisher	Wiley	de_DE
dc.relation.uri	http://dx.doi.org/10.1002/humu.24326	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency	de_DE
dc.type	Article	de_DE
utue.quellen.id	20220728000000_02449
utue.publikation.seiten	403-419	de_DE
utue.personen.roh	Scala, Marcello
utue.personen.roh	Wortmann, Saskia B.
utue.personen.roh	Kaya, Namik
utue.personen.roh	Stellingwerff, Menno D.
utue.personen.roh	Pistorio, Angela
utue.personen.roh	Glamuzina, Emma
utue.personen.roh	van Karnebeek, Clara D.
utue.personen.roh	Skrypnyk, Cristina
utue.personen.roh	Iwanicka-Pronicka, Katarzyna
utue.personen.roh	Piekutowska-Abramczuk, Dorota
utue.personen.roh	Ciara, Elzbieta
utue.personen.roh	Tort, Frederic
utue.personen.roh	Sheidley, Beth
utue.personen.roh	Poduri, Annapurna
utue.personen.roh	Jayakar, Parul
utue.personen.roh	Jayakar, Anuj
utue.personen.roh	Upadia, Jariya
utue.personen.roh	Walano, Nicolette
utue.personen.roh	Haack, Tobias B.
utue.personen.roh	Prokisch, Holger
utue.personen.roh	Aldhalaan, Hesham
utue.personen.roh	Karimiani, Ehsan G.
utue.personen.roh	Yildiz, Yilmaz
utue.personen.roh	Ceylan, Ahmet C.
utue.personen.roh	Santiago-Sim, Teresa
utue.personen.roh	Dameron, Amy
utue.personen.roh	Yang, Hui
utue.personen.roh	Toosi, Mehran B.
utue.personen.roh	Ashrafzadeh, Farah
utue.personen.roh	Akhondian, Javad
utue.personen.roh	Imannezhad, Shima
utue.personen.roh	Mirzadeh, Hanieh S.
utue.personen.roh	Maqbool, Shazia
utue.personen.roh	Farid, Aisha
utue.personen.roh	Al-Muhaizea, Mohamed A.
utue.personen.roh	Alshwameen, Meznah O.
utue.personen.roh	Aldowsari, Lama
utue.personen.roh	Alsagob, Maysoon
utue.personen.roh	Alyousef, Ashwaq
utue.personen.roh	AlMass, Rawan
utue.personen.roh	AlHargan, Aljouhra
utue.personen.roh	Alwadei, Ali H.
utue.personen.roh	AlRasheed, Maha M.
utue.personen.roh	Colak, Dilek
utue.personen.roh	Alqudairy, Hanan
utue.personen.roh	Khan, Sameena
utue.personen.roh	Lines, Matthew A.
utue.personen.roh	Cazorla, M. Angeles Garcia
utue.personen.roh	Ribes, Antonia
utue.personen.roh	Morava, Eva
utue.personen.roh	Bibi, Farah
utue.personen.roh	Haider, Shahzad
utue.personen.roh	Ferla, Matteo P.
utue.personen.roh	Taylor, Jenny C.
utue.personen.roh	Alsaif, Hessa S.
utue.personen.roh	Firdous, Abdulwahab
utue.personen.roh	Hashem, Mais
utue.personen.roh	Shashkin, Chingiz
utue.personen.roh	Koneev, Kairgali
utue.personen.roh	Kaiyrzhanov, Rauan
utue.personen.roh	Efthymiou, Stephanie
utue.personen.roh	Genomics, Queen Square
utue.personen.roh	Schmitt-Mechelke, Thomas
utue.personen.roh	Ziegler, Andreas
utue.personen.roh	Issa, Mahmoud Y.
utue.personen.roh	Elbendary, Hasnaa M.
utue.personen.roh	Striano, Pasquale
utue.personen.roh	Alkuraya, Fowzan S.
utue.personen.roh	Zaki, Maha S.
utue.personen.roh	Gleeson, Joseph G.
utue.personen.roh	Barakat, Tahsin Stefan
utue.personen.roh	Bierau, Jorgen
utue.personen.roh	van der Knaap, Marjo S.
utue.personen.roh	Maroofian, Reza
utue.personen.roh	Houlden, Henry
dcterms.isPartOf.ZSTitelID	Human Mutation	de_DE
dcterms.isPartOf.ZS-Issue	3	de_DE
dcterms.isPartOf.ZS-Volume	43	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE