Results 141 to 150 of about 31,520 (324)

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

KCNJ4 variants disrupt inward‐rectifier potassium channel function and cause refractory epilepsy

Epilepsia, EarlyView.
Abstract Objective Epilepsy is a common neurological disorder with a strong genetic basis, most frequently arising from ion channel dysfunction. Although multiple inwardly rectifying potassium (Kir) channels have been implicated in epileptogenesis, the contribution of KCNJ4, which encodes the Kir2.3 channel, has not previously been established in human
Hu Pan, Deng Liu, Wuhen Xu, Yang Li, Juanli Hu, Oppermann Henry, Alexander Fuchs, Rami Abou Jamra, Zhen Liu, Mei He, Yuanlu Chen, Shengnan Wu, Xiaohuan Dong, Yiqiao Chen, Pengchao Wang, Weiyue Gu, Han Jing, Yabing Tang, Ya‐Jie Wang, Xiao Mao, Neng Xiao   +20 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Fetal Rapid Eye Movement Sleep Dysfunction as a Potential Early Indicator for NALCN-Related CLIFAHDD Syndrome: A Case Report. [PDF]

Prenat Diagn
Prenatal Diagnosis, Volume 46, Issue 3, Page 448-450, March 2026.
Fukumori F, Maeda Y, Maki K, Takenouchi T, Kosaki K, Funato H, Kondo E, Ikeda T.   +7 more
europepmc   +2 more sources

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

Development of a Zebrafish Embryo‐Based Test System for Thyroid Hormone System Disruption: 3Rs in Ecotoxicological Research

Environmental Toxicology and Chemistry, EarlyView.
Abstract There is increasing concern regarding pollutants disrupting the vertebrate thyroid hormone (TH) system, which is crucial for development. Thus, identification of TH system–disrupting chemicals (THSDCs) is an important requirement in the Organisation for Economic Co‐operation and Development (OECD) testing framework.
Lisa Gölz, Melanie Blanc‐Legendre, Maximilian Rinderknecht, Laura Behnstedt, Sara Coordes, Luisa Reger, Sacha Sire, Xavier Cousin, Thomas Braunbeck, Lisa Baumann   +9 more
wiley   +1 more source

Quantifying the Pressure of Labial and Buccinator Regions Pre‐ and Post‐ Facial Nerve Reanimation

Head &Neck, EarlyView.
ABSTRACT Background Flaccid facial nerve paralysis (FFNP) impairs oral function and quality of life. Tensor fascia lata slings (TFL) are used to improve oral competence. This study used the Iowa Oral Performance Instrument (IOPI) to measure oral competence in patients with FFNP undergoing facial reanimation.
Emma Charters, Megan Lai, Caleb Heng, Briony Adshead, Virginia Ricketts, Tsu‐Hui Low   +5 more
wiley   +1 more source

Integrating Chain‐of‐Thought and Retrieval Augmented Generation Enhances Rare Disease Diagnosis From Clinical Notes

Medicine Bulletin, EarlyView.
ABSTRACT Background Several studies show that large language models (LLMs) struggle with phenotype‐driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models such as GPT and LLaMA to predict candidate genes.
Zhanliang Wang, Da Wu, Quan Nguyen, Kai Wang   +3 more
wiley   +1 more source

Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition

Frontiers in Neurology
BackgroundCongenital myopathies are a group of heterogeneous inherited disorders, mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of clinical phenotype can be highly variable, going from very mild to severe presentations ...
Daniela Piga, Martina Rimoldi, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D’Amico, Enrico Bertini, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi, Dario Ronchi, Stefania Corti, Stefania Corti   +17 more
doaj   +1 more source

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome [PDF]

, 2017
Marinesco-Sjögren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene,
Baudis, Michael, Bauer, Peter, Benedicenti, Francesco, Bornemann, Antje, Claeys, Kristl G., de Goede, Christian, Dufke, Andreas, Finkel, Richard S., Goebel, Hans H., Häussler, Martin, Inzana, Francesca, Kingston, Helen, Kirschner, Janbernd, Krieger, Michael, Lia Taratuto, Ana, Medne, Livija, Muschke, Petra, Pirra, Laura, Rivier, François, Roos, Andreas, Rudnik-Schöneborn, Sabine, Senderek, Jan, Sonmez, Fatma Mujgan, Spengler, Sabrina, Stanzial, Franco, Stendel, Claudia, Synofzik, Matthis, Tay, Stacey Kiat-Hong, Topaloglu, Haluk, Uyanik, Gökhan, Wand, Dorothea, Weis, Joachim, Williams, Denise, Zerres, Klaus   +33 more
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