Results 181 to 190 of about 714,611 (262)

Infantile Epileptic Spasm Syndrome Caused by <i>TAF1</i> Missense Variants: Expanding the Epileptic Phenotype and Revealing Underlying Impairments in Neuronal Excitability and Development. [PDF]

Hum Mutat
Xiao H, Xie C, Peng P, Ni X, Mao L, Peng J.   +5 more
europepmc   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Identification and functional characterization of a novel mutation in the NEUROD1 gene in a Chinese family with maturity-onset diabetes of the young. [PDF]

Acta Diabetol
Li J, Zhang J, Ren S, Liu Y, Wu C, Dong J, Zhu C, Chen S, Zhang H, Li T, Jiang Y.   +10 more
europepmc   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

Whole-Genome Sequencing Identifies Potentially Causative Variants in <i>SOX30</i>, <i>AKAP4</i>, and <i>RNF220</i> in Non-Obstructive Azoospermia. [PDF]

Int J Mol Sci
Ebrahimi Askari R, Malcher A, Sefid F, Sadeghzadeh S, Ibrahim R, Pastuszak K, Srivastava A, Mehdi Kalantar S, Vahidi S, Ghasemi N, Kurpisz M.   +10 more
europepmc   +1 more source

Progress report on new epilepsy treatments: A summary of the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices (EILAT XVIII). II. Treatments in more advanced clinical development

Epilepsia, EarlyView.
Abstract This article summarizes data for 13 investigational treatments for which at least preliminary seizure outcome data in patients with epilepsy were reported at the Eighteenth Eilat Conference on New Antiepileptic Drugs and Devices held in Madrid, Spain, on May 3–6, 2026.
Meir Bialer, Cecilie Johannessen Landmark, Matthias J. Koepp, Emilio Perucca, Piero Perucca, Torbjörn Tomson, H. Steve White, Elaine Wirrell   +7 more
wiley   +1 more source

Efficacy of plasma exchange and exchange transfusion in the clinical management of severe hypertriglyceridemia in emergency. [PDF]

Mol Genet Metab Rep
Stefanutti C, Zeppa G, Perrone G, Labbadia G, Galoppi P, Demarco V, Fornari E, Bordugo A, Santelia C, Mancioppi V, Zenti MG, Cossu M, Sovrano B, Vivenzio A, Cohen H, Soran H, Pisciotta L, Maffeis C, Bjelakovic B, Widhalm K, Rizzo G, MIGHTY MEDIC - Multidisciplinary International Group for Hemapheresis Therapy and Metabolic Disorders Control.   +21 more
europepmc   +1 more source

Functional profiling of STXBP1 missense variants using a novel dual‐readout fluorometric assay

Epilepsia, EarlyView.
Abstract Objective STXBP1‐related disorders (STXBP1‐RD) are among the most common genetic neurodevelopmental disorders, marked by early onset epilepsy, global developmental delay, and motor impairments. Many missense variants remain uncharacterized, limiting accurate variant interpretation and hindering development of precision therapies.
Elisa A. Waxman, Jennine M. Dawicki‐McKenna, Ian McSalley, Anna J. Prentice, Torrey A. Chisari, Sarah M. Ruggiero, Jillian L. McKee, Alex J. Felix, Giulia Pavani, Benjamin L. Prosser, Michael J. Boland, Ingo Helbig   +11 more
wiley   +1 more source

ATRX large deletions and truncating mutations are associated with primary induction chemotherapy resistance in high-risk neuroblastoma: a multicenter propensity-weighted cohort study. [PDF]

Front Oncol
Sun J, Qian B, Lu L, Zhou J.
europepmc   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source