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

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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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