Results 21 to 30 of about 153 (89)

Genetic neonatal-onset epilepsies and developmental/epileptic encephalopathies with movement disorders: A systematic review [PDF]

, 2021
Despite expanding next generation sequencing technologies and increasing clinical in-terest into complex neurologic phenotypes associating epilepsies and developmental/epileptic encephalopathies (DE/EE) with movement disorders (MD), these monogenic ...
Fusco C., Leuzzi V., Percesepe A., Pisani F., Spagnoli C.   +4 more
core   +1 more source

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome [PDF]

Loss-of-function mutation of ABCC9, the gene encoding the SUR2 subunit of ATP sensitive-potassium (KATP) channels, was recently associated with autosomal recessive ABCC9-related intellectual disability and myopathy syndrome (AIMS).
Abdel-Hamid, Mohamed S, Alkuraya, Fowzan S, Ansari, Morad, Barøy, Tuva, Brauteset, Lin, Duru, Kingsley C, Efthymiou, Stephanie, Hamilton, Mark, Houlden, Henry, Komdeur, Fenne L, Liang, Robin Amanda, Maroofian, Reza, McClenaghan, Conor, Nagaraj, Vini, Nichols, Colin G, Ochenkowska, Katarzyna, Samarut, Éric, Scala, Marcello, Severino, Mariasavina, Smeland, Marie Louise Falkenberg, Sultan, Tipu, Tryon, Robert C, Van Ghelue, Marijke, Van Haaften, Gijs, Van Haelst, Mieke M, Vona, Barbara, Zafar, Faisal, Zaki, Maha S, Zara, Federico   +28 more
core   +11 more sources

Identification of compound heterozygous deletions in the WWOX gene caused WOREE syndrome by whole exome sequencing

, 2023
Abstract Background WWOXbiallelic and loss-of-function pathogenic variants cause WWOX-related epileptic encephalopathy (WOREE syndrome), which has been reported in 60 patients to date. In this study, we report on a WOREE syndrome patient who presented with early-onset refractory seizures and global neurodevelopmental delay and died at the age ...
xing-sheng Dong, Xiao-jun Wen, Sheng Zhang, De-gang Wang, Yi Xiong, Zhi-ming Li   +5 more
openaire   +1 more source

Molecular biology of the WWOX gene that spans chromosomal fragile site FRA16D [PDF]

, 2021
It is now more than 20 years since the FRA16D common chromosomal fragile site was characterised and the WWOX gene spanning this site was identified. In this time, much information has been discovered about its contribution to disease; however, the normal
Choo, A., Dayan, S., Lee, C.S., O'Keefe, L.V., Richards, R.I.   +4 more
core   +1 more source

Modeling WWOX Loss of Function in vivo: What Have We Learned? [PDF]

Front Oncol, 2018
The WW domain–containing oxidoreductase (WWOX) gene encompasses a common fragile sites (CFS) known as FRA16D, and is implicated in cancer. WWOX encodes a 46kDa adaptor protein, which contains two N-terminal WW–domains and a catalytic domain at its C ...
Tanna M, Aqeilan RI.
europepmc   +3 more sources

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients [PDF]

, 2023
BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS).
Accogli, Andrea, Agolini, Emanuele, Alkuraya, Fowzan S, Ashrafzadeh, Farah, Baglioni, Valentina, Bagnasco, Irene, Becmeur-Lefebvre, Mathilde, Beiraghi, Mehran, Bertini, Enrico, Borggraefe, Ingo, Brischoux-Boucher, Elise, Bruel, Ange-Line, Brusco, Alfredo, Bubshait, Dalal K, Burglen, Lydie, Cabrol, Christelle, Capra, Valeria, Cilio, Maria Roberta, Cornet, Marie-Coralie, Coubes, Christine, Cremer, Kirsten, Danhaive, Olivier, Delague, Valérie, Delplancq, Geoffroy, Denommé-Pichon, Anne-Sophie, Di Giacomo, Marilena Carmela, Doco-Fenzy, Martine, Engel, Camille, Engels, Hartmut, Galehdari, Hamid, Gleeson, Joseph G, Goffeney, Joanna, Guimier, Anne, Gérard, Marion, Harms, Frederike L, Hashemi-Gorji, Farzad, Heron, Delphine, Houlden, Henry, Iacomino, Michele, Kaiyrzhanov, Rauan, Kamien, Benjamin, Karimiani, Ehsan Ghayoor, Koneev, Kairgali, Kraus, Dror, Kuentz, Paul, Kutsche, Kerstin, Lederer, Damien, Lesca, Gaetan, Maidyrov, Yerdan, Maroofian, Reza, Massingham, Lauren, Mignot, Cyril, Miryounesi, Mohammad, Morris-Rosendahl, Déborah, Nagarajan, Lakshmi, Novelli, Antonio, Odent, Sylvie, Ormières, Clothilde, Partlow, Jennifer Neil, Pasquier, Laurent, Penney, Lynette, Philippe, Christophe, Piard, Juliette, Piccolo, Gianluca, Poulton, Cathryn, Putoux, Audrey, Rio, Marlène, Rougeot, Christelle, Sadykova, Dinara, Salpietro, Vincenzo, Scheffer, Ingrid, Schneider, Amy, Shashkin, Chingiz, Srivastava, Siddharth, Straussberg, Rachel, Striano, Pasquale, Tacke, Moritz, Valence, Stéphanie, Valente, Enza Maria, Van Maldergem, Lionel, Venot, Perrine, Villard, Laurent, Vitobello, Antonio, Wagner, Johanna, Wagner, Matias, Walsh, Christopher, Yassaee, Vahid Reza, Zaki, Maha S, Zamani, Mina, Zara, Federizo   +89 more
core  

Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures [PDF]

, 2019
OBJECTIVE: Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe developmental and epileptic encephalopathies. We delineate the genetic causes and genotype-phenotype correlations of a large EIMFS cohort.
Boysen, KE, Burgess, R, Gill, D, Guerrini, R, Kurian, MA, Marini, C, McTague, A, Mefford, HC, Myers, KA, Poduri, AH, Rochtus, A, Sadleir, LG, Scheffer, IE, Specchio, N, Trivisano, M, Wang, S, Yang, X, Zeng, Q, Zhang, Y-H   +18 more
core   +2 more sources

CDH1 regula la mielinización durante el desarrollo del Sistema Nervioso Central [PDF]

, 2023
[ES]APC/C-Cdh1 desempeña una función esencial en el desarrollo del sistema nervioso, donde coordina la salida de los progenitores neurales del ciclo celular y el inicio de la neurogénesis y, con ello, el tamaño del encéfalo y organización de la corteza ...
Gomila Huguet, Silvia
core   +1 more source

Passionate Histories [PDF]

, 2020
This book examines the emotional engagements of both Indigenous and Non-Indigenous people with Indigenous history. The contributors are a mix of Indigenous and Non-Indigenous scholars, who in different ways examine how the past lives on in the present ...
Curthoys, Ann, Docker, John, Peters-Little, Frances   +2 more
core   +4 more sources

Identification, impacts and prioritization of emerging contaminants present in the GBR and Torres Strait marine environments [PDF]

, 2015
Current policy and management for marine water quality in the Great Barrier Reef (GBR) focusses on sediment, nutrients and PSII herbicides. While other so-called emerging contaminants are known to be present in the marine environment, little is known ...
Berry, K.L.E., Brinkman, D.L., Davis, A., King, O., Kookana, R., Kroon, F.J., Leusch, F., Lewis, S., Makarynskyy, O., Melvin, S., Müller, J., Neale, P., Negri, A., O’Brien, D., Puotinen, M., Smith, R., Tsang, J., van de Merwe, J., Warne, Michael, Williams, M.   +19 more
core   +2 more sources