Results 91 to 100 of about 57,363 (307)

Fatty Acid Binding Protein 5 Mediates Astrocytic Pyroptosis and Neuroinflammation in Epilepsy via cGAS/STING Pathway

Advanced Science, EarlyView.
Astrocytic FABP5 promotes mitochondrial stress, cGAS‐STING pathway activation, pyroptosis, and neuroinflammation in epilepsy, contributing to seizure pathology. Genetic targeting of FABP5 or pharmacological inhibition of STING alleviates epileptic phenotypes, highlighting a potential therapeutic strategy for epilepsy.
Chen Chen, Yao Zhao, Yangye Lian, Yifei Hou, Lifen Gong, Tingting Wu, Yulin Yang, Jiaqi Zhu, Xin Wang, Kaihua Zhang, Jing Ding   +10 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Os motivos da baixa escolaridade são fatores preditores do desempenho cognitivo de pacientes adultos com epilepsia do lobo temporal mesial fármacorresistente? [PDF]

, 2012
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Programa de Pós-Graduação em Ciências Médicas, Florianópolis, 2012Introdução: A escolaridade é positivamente associada com a performance cognitiva de pessoas ...
Cavallazzi, Gisele Genovez
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Surgically treated intracranial supratentorial calcifying pseudoneoplasms of the neuraxis (CAPNON) with drug-resistant left temporal lobe epilepsy: A case report and review of the literature

Epilepsy and Behavior Case Reports, 2019
Calcifying pseudoneoplasms of the neuraxis (CAPNON) are rare pathological lesions that can present anywhere in the central nervous system. Symptoms vary depending on the location, though they often include seizures, especially in intracranial and ...
Yuta Tanoue, Takehiro Uda, Kosuke Nakajo, Shugo Nishijima, Tsuyoshi Sasaki, Kenji Ohata   +5 more
doaj   +1 more source

Déjà experiences in temporal lobe epilepsy [PDF]

, 2011
Historically, déjà vu has been linked to seizure activity in temporal lobe epilepsy, and clinical reports suggest that many patients experience the phenomenon as a manifestation of simple partial seizures.
Moulin, Chris JA, Butler, Chris R, Souchay, Celine, Illman, Nathan A   +3 more
core   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Semiautomatic volumetry of the temporal lobes of the brain and correlation with electroencephalography results in dogs with assumed idiopathic epilepsy

Journal of Veterinary Internal Medicine
Background Lesions causing refractory epilepsy, often associated with temporal lobe epilepsy (TLE), can be undetectable on standard magnetic resonance imaging (MRI) in dogs.
Paulina Kinga Drobot, Aleksandra Banasik, Karolina Owsińska‐Schmidt, Marcin Wrzosek, Przemysław Podgórski   +4 more
doaj   +1 more source

The spatio-temporal mapping of epileptic networks: Combination of EEG–fMRI and EEG source imaging [PDF]

, 2009
Simultaneous EEG–fMRI acquisitions in patients with epilepsy often reveal distributed patterns of Blood Oxygen Level Dependant (BOLD) change correlated with epileptiform discharges.
Lemieux, L., Lhatoo, S., Guye, M., L Lemieux, M Guye, McEvoy, A.W., Thornton, R., R Thornton, Michel, Christoph, Spinelli, L., Duncan, J.S., Michel, C.M., Spinelli, Laurent Jean-François, Carmichael, D.W., L Spinelli, C M Michel, R Rodionov, Rodionov, R., J S Duncan, Vulliemoz, Serge, Carmichael, D. W., S Vulliemoz, McEvoy, A. W., A W Mcevoy, Prof Louis Lemieux, Chesham Lane, Vulliemoz, S., D W Carmichael, S Lhatoo, Duncan, J. S.   +29 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

Validação de instrumentos de rastreio para depressão em pacientes com epilepsia mesial temporal refratária [PDF]

, 2015
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Programa de Pós-Graduação em Ciências Médicas, FLorianópolis, 2015.Objetivo: avaliar a validade global e a utilidade para rastreio de depressão da Escala de ...
Zingano, Bianca de Lemos
core