Results 151 to 160 of about 562,551 (304)

Behavioral and epileptic phenotypes in a CHD2-related developmental delay model. [PDF]

Epilepsia
Mavashov A, Turk S, Sarusi Y, Brusel M, Ben Tov Perry R, Quinn S, Almog Y, Vilian K, Yam M, Ulitsky I, Rubinstein M.   +10 more
europepmc   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Identification of a Homozygous PGM2L1 Variant in a Male Patient With Developmental Delay and Seizures. [PDF]

Mol Genet Genomic Med
Niu M, Wang D, Jia S.
europepmc   +1 more source

Screening for Autism Spectrum Disorders in Flemish Day-Care Centres with the Checklist for Early Signs of Developmental Disorders [PDF]

, 2010
Dereu, Mieke, Meirsschaut, Mieke, Pattyn, Griet, Raymaekers, Ruth, Roeyers, Herbert, Schietecatte, Inge, Warreyn, Petra   +6 more
core   +2 more sources

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Genetic aetiology of global developmental delay and intellectual disability in Africa: a scoping review. [PDF]

Front Genet
Dukuze N, Hitayezu J, Uyisenga JP, Hakizimana O, Bours V, Uwineza A, Alagbonsi AI.   +6 more
europepmc   +1 more source

A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai, Sen Zhang, Haipei Zhang, Yating Zhang, Junhong Guo, Xiaoyan Yang   +5 more
wiley   +1 more source

The analysis of gut microbiota characteristics in children with global developmental delay. [PDF]

Front Cell Infect Microbiol
Wan L, Huang C, Kong W, Li M, Lu C.
europepmc   +1 more source

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay. [PDF]

EMBO Mol Med
Hough SH, Jhujh SS, Awwad SW, Lewis OE, Lam S, Thomas JC, Mosler T, Bader A, Bartik L, McKee S, Amudhavalli S, Colin E, Damseh N, Clement E, Cacheiro P, Majumdar A, Smedley D, Fluss J, Giannini R, Thiffault I, Zagnoli Vieira G, Belotserkovskaya R, Smerdon SJ, Beli P, Galanty Y, Carnie CJ, Stewart GS, Jackson SP.   +27 more
europepmc   +2 more sources