Results 61 to 70 of about 534,482 (205)

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Audiogenic reflex seizures in cats [PDF]

, 2015
This study aims at characterizing feline audiogenic reflex seizures (FARS). An online questionnaire was developed to capture information from owners with cats suffering FARS.
Sparkes, A, Harvey, Robert J, Bessant, C, Lowrie, M, Garosi, L, Harvey, RJ   +5 more
core   +1 more source

Status of 25-hydroxy vitamin D level in simple febrile seizures and its correlation with recurrence of seizures

Avicenna Journal of Medicine, 2020
Background: Febrile seizures are associated with a lot of modifiable and nonmodifiable risk factors. Extensive research is currently going on to discover more and more risk factors of febrile seizures, so that they can be modified to decrease their ...
Jehangir A Bhat, Tasleem Arif Bhat, Sajad A Sheikh, Zubair A Wani, Roshan Ara   +4 more
doaj   +1 more source

Interleukin-6 Gene Polymorphism in Febrile Seizures

, 2021
Febrile seizures comprise a common type of pediatric convulsion. Inflammation and genetics may be involved in their pathogenesis. Regarding the role of cytokines (especially interleukin-6) in febrile responses, we performed a case control study of ...
Yavuzer, Ugur, Dundar, Nihal Olgac, Kahramaner, Zelal, Sallakci, Nilgun, Nur, Banu Guzel, DUMAN, ÖZGÜR, HASPOLAT, ŞENAY   +6 more
core   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Potential Role of Febrile Seizures and Other Risk Factors Associated With Sudden Deaths in Children

JAMA Network Open, 2019
Key Points Question Are febrile seizures associated with increased risk of sudden deaths in young children, and could febrile seizures contribute to some deaths?
L. Crandall, Joyce H. Lee, Rebecca Stainman, Daniel Friedman, O. Devinsky   +4 more
semanticscholar   +1 more source

Zebrafish xenograft models as a fast platform for metastasis diagnosis and cisplatin response of head and neck squamous cell carcinoma

Animal Models and Experimental Medicine, EarlyView.
A zebrafish xenograft model accurately distinguishes metastatic from non‐metastatic HNSCC and recapitulates cisplatin sensitivity/resistance patterns. Using patient‐derived tumors, it predicts individual therapeutic responses, offering a rapid, clinically applicable platform for guiding personalized treatment. Abstract Background Head and neck squamous
Lu Chen, Shu Sun, Yujia Liu, Liehao Jiang, Cuiyun Wu, Ting Liu, Yujiao Zhao, Yuwei Liu, Lu Liu, Qi Wang, Xiaowei Zheng, Ping Huang   +11 more
wiley   +1 more source

What is the association between iron deficiency anemia and the frequency or severity of febrile seizures in children under the age of 5?

Journal of Medicine in Scientific Research
Background and Aim Febrile seizures (FS) are a common type of convulsion in young children and are frequently associated with fever in the absence of a central nervous system infection.
Rehab Fawzy Abdel Mohsen Soliman, Samar Mahmoud Ahmed, Yasmen Ahmed Said, Shaimaa Mohamed Hassan, Dalia Hassanin Hussin, Dina Gaber Soliman, Zeinab Abdalla Ali, Eman Farouk Osman   +7 more
doaj   +1 more source

From Interferon Signature to the Clinical Landscape: Type I Interferonopathies

Arthritis &Rheumatology, EarlyView.
Objective TypeI interferonopathies are heterogeneous diseases driven by dysregulated type I interferon (IFN‐I) signaling. Diagnosis is challenging due to clinical/molecular variability and the need for IFN‐I quantification. The aim of this study was to characterize the clinical, immunologic, genetic, molecular profiles of patients with suspected ...
Ismail Yaz, Seza Ozen, Hacer Neslihan Bildik, Canberk Ipsir, Dilara Unal, Saliha Esenboga, Begum Cicek, Mehmet Emin Seker, Fatima Aerts‐Kaya, Seher Sener, Mehmet Orhan Erkan, Hanife Avci, Deniz Cagdas, Ilhan Tezcan   +13 more
wiley   +1 more source

Neocortex- and hippocampus-specific deletion of Gabrg2 causes temperature-dependent seizures in mice

Cell Death and Disease, 2021
Mutations in the GABRG2 gene encoding the γ-aminobutyric acid (GABA) A receptor gamma 2 subunit are associated with genetic epilepsy with febrile seizures plus, febrile seizures plus, febrile seizures, and other symptoms of epilepsy.
Xinxiao Li, Shengnan Guo, Siying Xu, Zhangping Chen, Lei Wang, Jiangwei Ding, Junming Huo, Lifei Xiao, Zhenquan He, Zhe Jin, Feng Wang, Tao Sun   +11 more
doaj   +1 more source