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

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

Developmental and epileptic encephalopathy 35 (DEE 35) is a severe neurological condition caused by biallelic variants in ITPA, encoding inosine triphosphate pyrophosphatase, an essential enzyme in purine metabolism. We delineate the genotypic and phenotypic spectrum of DEE 35, analyzing possible pr...

Full description

Bibliographic Details
Main Authors: Akhondian, J. (Author), Aldhalaan, H. (Author), Aldowsari, L. (Author), AlHargan, A. (Author), Alkuraya, F.S (Author), AlMass, R. (Author), Al-Muhaizea, M.A (Author), Alqudairy, H. (Author), AlRasheed, M.M (Author), Alsagob, M. (Author), Alsaif, H.S (Author), Alshwameen, M.O (Author), Alwadei, A.H (Author), Alyousef, A. (Author), Ashrafzadeh, F. (Author), Barakat, T.S (Author), Bibi, F. (Author), Bierau, J. (Author), Ceylan, A.C (Author), Ciara, E. (Author), Colak, D. (Author), Dameron, A. (Author), Efthymiou, S. (Author), Elbendary, H.M (Author), Farid, A. (Author), Ferla, M.P (Author), Firdous, A. (Author), García Cazorla, M.Á (Author), Genomics, Q.S (Author), Glamuzina, E. (Author), Gleeson, J.G (Author), Haack, T.B (Author), Haider, S. (Author), Hashem, M. (Author), Houlden, H. (Author), Imannezhad, S. (Author), Issa, M.Y (Author), Iwanicka-Pronicka, K. (Author), Jayakar, A. (Author), Jayakar, P. (Author), Kaiyrzhanov, R. (Author), Karimiani, E.G (Author), Kaya, N. (Author), Khan, S. (Author), Koneev, K. (Author), Lines, M.A (Author), Maqbool, S. (Author), Maroofian, R. (Author), Mirzadeh, H.S (Author), Morava, E. (Author), Piekutowska-Abramczuk, D. (Author), Pistorio, A. (Author), Poduri, A. (Author), Prokisch, H. (Author), Ribes, A. (Author), Santiago-Sim, T. (Author), Scala, M. (Author), Schmitt-Mechelke, T. (Author), Shashkin, C. (Author), Sheidley, B. (Author), Skrypnyk, C. (Author), Stellingwerff, M.D (Author), Striano, P. (Author), Taylor, J.C (Author), Toosi, M.B (Author), Tort, F. (Author), Upadia, J. (Author), van der Knaap, M.S (Author), van Karnebeek, C.D (Author), Walano, N. (Author), Wortmann, S.B (Author), Yang, H. (Author), Yildiz, Y. (Author), Zaki, M.S (Author), Ziegler, A. (Author)
Format: Article
Language:English
Published: John Wiley and Sons Inc 2022
Subjects:
congenital microcephaly
developmental and epileptic encephalopathy 35
heart disease
ITPA
ITPase
white matter abnormalities
Online Access:View Fulltext in Publisher

Internet

View Fulltext in Publisher

Similar Items