Results 71 to 80 of about 45,499 (265)

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

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

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

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

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

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

The impact of cannabis use on intracarotid amobarbital testing

Epilepsy & Behavior Reports, 2019
Chronic cannabis use impacts memory functioning, even while users are not acutely intoxicated. The impact of cannabis use on Wada or intracarotid amobarbital testing (IAT) has not previously been described.
Christopher H. Domen, Archana Shrestha, Kevin Chapman, Cornelia Drees   +3 more
doaj   +1 more source

Temporal Lobe Epilepsy [PDF]

British Journal of Psychiatry, 1988
G, Garyfallos, N, Mamos, A, Adamopoulou
openaire   +2 more sources

Gephyrin Neurological Autoimmunity

Annals of Neurology, EarlyView.
Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin‐immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff‐person‐like syndrome, but its broader clinical relevance remains unknown.
Maria Chiara Pantuliano, Friederike A. Arlt, Naomi Arenson, Irena Dujmovic Basuroski, Divyanshu Dubey, Connie E. Lesnick, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael A. Lane, Andrew McKeon   +10 more
wiley   +1 more source

Psychiatric disorders in children and adolescents with temporal lobe epilepsy: A narrative review

Epilepsia Open
People with epilepsy (PWE) are at higher risk of psychiatric disorders (PD), disability, and reduced quality of life than the general population, especially in childhood and adolescence and when seizures originate from the temporal lobe.
Pietro Cappelletto, Claudia Accolla, Martina Preti, Tiziana Pisano, Carmen Barba, Renzo Guerrini   +5 more
doaj   +1 more source