Results 1 to 10 of about 153 (89)

A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome [PDF]

Frontiers in Pediatrics, 2022
BackgroundWOREE syndrome is a rare neurodevelopmental disorder featuring drug-resistant epilepsy and global developmental delay. The disease, caused by biallelic pathogenic variants in the WWOX gene, usually leads to severe disability or death within the
Antonella Riva, Antonella Riva, Giulia Nobile, Thea Giacomini, Thea Giacomini, Marzia Ognibene, Marcello Scala, Marcello Scala, Ganna Balagura, Francesca Madia, Andrea Accogli, Andrea Accogli, Ferruccio Romano, Domenico Tortora, Mariasavina Severino, Paolo Scudieri, Paolo Scudieri, Simona Baldassari, Ilaria Musante, Paolo Uva, Vincenzo Salpietro, Vincenzo Salpietro, Annalaura Torella, Annalaura Torella, Vincenzo Nigro, Vincenzo Nigro, Valeria Capra, Lino Nobili, Lino Nobili, Pasquale Striano, Pasquale Striano, Maria Margherita Mancardi, Maria Margherita Mancardi, Federico Zara, Federico Zara, Michele Iacomino, Michele Iacomino   +36 more
doaj   +9 more sources

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. [PDF]

Genet Med, 2019
Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic encephalopathy (WOREE syndrome). We review clinical and molecular data on WWOX-related disorders, further describing WOREE syndrome and phenotype/genotype correlations.We report clinical and ...
Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C, DDD Study, Kini U, Philippe C.   +30 more
europepmc   +18 more sources

Neuroimaging features of WOREE syndrome: a mini-review of the literature [PDF]

Frontiers in Pediatrics, 2023
The WWOX gene encodes a 414-amino-acid protein composed of two N-terminal WW domains and a C-terminal short-chain dehydrogenase/reductase (SDR) domain. WWOX protein is highly conserved among species and mainly expressed in the cerebellum, cerebral cortex,
Laura Battaglia, Giovanna Scorrano, Rossana Spiaggia, Antonio Basile, Stefano Palmucci, Pietro Valerio Foti, Corrado Spatola, Michele Iacomino, Franco Marinangeli, Elisa Francia, Francesco Comisi, Antonio Corsello, Vincenzo Salpietro, Vincenzo Salpietro, Alessandro Vittori, Emanuele David   +15 more
doaj   +6 more sources

Identification of compound heterozygous deletion of the WWOX gene in WOREE syndrome [PDF]

BMC Medical Genomics, 2023
Background Biallelic loss-of-function variants in WWOX cause WWOX-related epileptic encephalopathy (WOREE syndrome), which has been reported in 60 affected individuals to date.
Xing-sheng Dong, Xiao-jun Wen, Sheng Zhang, De-gang Wang, Yi Xiong, Zhi-ming Li   +5 more
doaj   +6 more sources

Neurological Disorders Associated with WWOX Germline Mutations—A Comprehensive Overview [PDF]

Cells, 2021
The transcriptional regulator WW domain-containing oxidoreductase (WWOX) is a key player in a number of cellular and biological processes including tumor suppression. Recent evidence has emerged associating WWOX with non-cancer disorders.
Ehud Banne, Baraa Abudiab, Sara Abu-Swai, Srinivasa Rao Repudi, Daniel J. Steinberg, Diala Shatleh, Sarah Alshammery, Leszek Lisowski, Wendy Gold, Peter L. Carlen, Rami I. Aqeilan   +10 more
doaj   +4 more sources

Modeling genetic epileptic encephalopathies using brain organoids [PDF]

EMBO Molecular Medicine, 2021
Developmental and epileptic encephalopathies (DEE) are a group of disorders associated with intractable seizures, brain development, and functional abnormalities, and in some cases, premature death.
Daniel J Steinberg, Srinivasarao Repudi, Afifa Saleem, Irina Kustanovich, Sergey Viukov, Baraa Abudiab, Ehud Banne, Muhammad Mahajnah, Jacob H Hanna, Shani Stern, Peter L Carlen, Rami I Aqeilan   +11 more
doaj   +3 more sources

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature. [PDF]

Genet Med, 2019
International ...
Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C, DDD Study, Kini U, Philippe C.   +30 more
europepmc   +6 more sources

Neonatal neuronal WWOX gene therapy rescues Wwox null phenotypes [PDF]

EMBO Molecular Medicine, 2021
WW domain‐containing oxidoreductase (WWOX) is an emerging neural gene‐regulating homeostasis of the central nervous system. Germline biallelic mutations in WWOX cause WWOX‐related epileptic encephalopathy (WOREE) syndrome and spinocerebellar ataxia and ...
Srinivasarao Repudi, Irina Kustanovich, Sara Abu‐Swai, Shani Stern, Rami I Aqeilan   +4 more
doaj   +2 more sources

WWOX-Related Neurodevelopmental Disorders: Models and Future Perspectives [PDF]

Cells, 2021
The WW domain-containing oxidoreductase (WWOX) gene was originally discovered as a putative tumor suppressor spanning the common fragile site FRA16D, but as time has progressed the extent of its pleiotropic function has become apparent.
Daniel J. Steinberg, Rami I. Aqeilan
doaj   +2 more sources

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk. [PDF]

Epilepsia, 2023
Abstract Objective WWOX is an autosomal recessive cause of early infantile developmental and epileptic encephalopathy (WWOX‐DEE), also known as WOREE (WWOX‐related epileptic encephalopathy). We analyzed the epileptology and imaging features of WWOX‐DEE, and investigated genotype–phenotype correlations, particularly with regard to survival.
Oliver KL, Trivisano M, Mandelstam SA, De Dominicis A, Francis DI, Green TE, Muir AM, Chowdhary A, Hertzberg C, Goldhahn K, Metreau J, Prager C, Pinner J, Cardamone M, Myers KA, Leventer RJ, Lesca G, Bahlo M, Hildebrand MS, Mefford HC, Kaindl AM, Specchio N, Scheffer IE.   +22 more
europepmc   +2 more sources