Results 81 to 90 of about 9,741 (297)

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

Ganglion Cyst of Lumbrical Muscles: A casereport

, 2022
Pao-Sheng Wu
openalex   +2 more sources

Real‐world‐data for phenotypes and genotypes of rare monogenic genetic epilepsies and genes of uncertain significance for epilepsy

Epilepsia Open, EarlyView.
Abstract Objectives The objectives of this study were to develop a real‐world‐data (RWD) database for patients with epilepsy to provide further real‐world‐evidence (RWE) for monogenic genetic epilepsies; to assess the usefulness of a diagnostic algorithm in epilepsy; and to examine protein 3D structures using in silico tools to predict variant ...
Haley Morris, Elizabeth Mathew, Shalini Bahl, Marta Villa‐Lopez, Saadet Mercimek‐Andrews   +4 more
wiley   +1 more source

Research progress on the use of the optical coherence tomography system for the diagnosis and treatment of central nervous system tumors

Ibrain, Volume 11, Issue 1, Page 3-18, Spring 2025.
With the advantages of high‐resolution imaging, efficient image acquisition, intraoperative real‐time detection, and radiation‐free and noninvasive characteristics, optical coherence tomography (OCT) provides accurate diagnosis and effective intraoperative guidance for the minimally invasive diagnosis and treatment of central nervous system (CNS ...
Jiuhong Li, Ziba Ayi, Gonggong Lu, Haibo Rao, Feilong Yang, Jing Li, Jiachen Sun, Junlin Lu, Xulin Hu, Si Zhang, Xuhui Hui   +10 more
wiley   +1 more source

Atraumatic intra‐articular, extra‐synovial ganglion cyst of the lateral knee deep to the iliotibial band: A case report and review of the literature

Clinical Case Reports
Key Clinical Message We highlight the rare case of an atraumatic, intra‐articular ganglion cyst of the lateral knee deep to the iliotibial band that was successfully treated nonoperatively, a pathology yet to be reported in orthopedic literature ...
Alvarho Guzman, Nicholas Williams, Therese Dela Rueda, Edward Xiao, Arina Caliman, James L. Chen, Patrick J. McGahan   +6 more
doaj   +1 more source

The T‐Cell Response Mechanism in Human Papillomavirus‐Associated Cervical Cancer and New Strategies for Immunotherapy

iNew Medicine, EarlyView.
ABSTRACT Human papillomavirus (HPV) is a double‐stranded DNA virus that infects human skin and mucosal tissues exclusively. The German scientist Harald zur Hausen was awarded the 2008 Nobel Prize in Physiology or Medicine for his discovery of the link between HPV infection and cervical cancer.
Fang Zhu, Farah Nazir, Ying Zhou, Yuhua Shang, Hongliang He, Tengchuan Jin   +5 more
wiley   +1 more source

Lysosome Evanescence Mediates Autophagic Flux Impairment in Glucose Imbalanced Environments

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Schwann cells (SCs) support axonal function and promote nerve regeneration. This study investigated how various glucose concentrations influence SC viability, oxidative stress, and autophagy, which contribute to diabetic neuropathy. RSC96 SCs were cultured under five glucose conditions (0, 2.5, 5.5, 50, or 100 mM) for 24, 48, and 72 h.
Yuan‐Chen Cheng, Ling‐Li Chang, Hung‐Chen Wang, Wei‐Chun Hung, Chia‐Hua Hsieh, Yi‐Hsuan Wang, Kuang‐I Cheng   +6 more
wiley   +1 more source

Exocrine Gland Dysfunction in Parkinson's Disease: Pathophysiology, Clinical Manifestations, and Therapeutic Perspectives—A Narrative Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Non‐motor symptoms, especially autonomic dysfunction, are major contributors to disability and decreased quality of life in Parkinson's disease (PD). Despite being common and having a wide range of clinical facets, exocrine gland dysfunction is still not well recognized and managed.
Renato P. Munhoz, Marina Farah, Laura Silveira‐Moriyama   +2 more
wiley   +1 more source

Evaluation of the Characteristics of Hand and Wrist Ganglion Cysts and Their Relationship with Ligamentous Injury

Gazi Medical Journal
Objective: The present study aimed to examine the characteristics of ganglion cysts in the hand and wrist region using magnetic resonance imaging (MRI) and to evaluate the relationship between these cyst existence and ligamentous injuries.
Toygun Kağan Eren, Yusufhan Arslan
doaj   +1 more source