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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,Elzbieta Ciara,Frederic Tort,Beth Sheidley,Annapurna Poduri,Parul Jayakar,Anuj Jayakar,Jariya Upadia,Nicolette Walano,Tobias B. Haack,Holger Prokisch,Hesham 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. Angeles Garcia 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

HUMAN MUTATION（2022）

Cited 10|Views61
Key words
congenital microcephaly,developmental and epileptic encephalopathy 35,heart disease,ITPA,ITPase,white matter abnormalities
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