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

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

Autor(en):

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

Tübinger Autor(en):

Haack, Tobias

Erschienen in:

Human Mutation (2022), Bd. 43, H. 3, S. 403-419

Verlagsangabe:

Wiley

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1002/humu.24326

ISSN:

1059-7794