Results 51 to 60 of about 826,950 (244)

Novel Genetic Locus for Generalized Tonic Clonic Epilepsy within the Juvenile Myoclonic Epilepsy Syndrome

, 2005
A genome-wide scan of a large family with juvenile myoclonic epilepsy (JME), seen at the All India Institute of Medical Sciences, New Delhi, was conducted to test an hypothesis that 2 loci, one predisposing to generalized tonic clonic seizures (GTCS) and
J Gordon Millichap, Millichap, J. Gordon
core   +1 more source

An RNA‐Binding Protein RBMS1 Promotes Endothelial Cell Autophagy to Maintain Vascular Homeostasis and Suppress Deep Vein Thrombosis

Advanced Science, EarlyView.
RBMS1, an RNA‐binding protein, restores vascular endothelial homeostasis by enhancing ATG3‐mediated autophagy, thereby attenuating thrombus formation and suggesting a potential avenue for further therapeutic exploration in DVT. ABSTRACT Deep vein thrombosis (DVT) is a prevalent vascular disorder characterized by aberrant coagulation within the deep ...
Chu Chu, Xinkui Liu, Nannan Fan, Xiaoyan Yu, Qiaoqiao Han, Yunhong Zhang, Wei Li, Yongqing Cai, Miaomiao Zhou, Fang Li, Feifei Shi, Zhen Zhang, Bin Wang, Xia Li   +13 more
wiley   +1 more source

Predicting Enzyme Turnover Numbers and Enabling Rational Enzyme Evolution

Advanced Science, EarlyView.
MCKcat, a deep learning framework combining multi‐scale convolution and cross‐attention, accurately predicts enzyme turnover number (kcat) by fusing sequence and reaction representations. It couples with rational design in a two‐step strategy for Bacillus aryabhattai laccase engineering, achieving a 75% positive rate with synergistically enhanced ...
Fengya Ge, Xiangyang Ma, Jiyan Li, Mengxiang Wang, Fuping Lu, Yihan Liu, Lin Wang   +6 more
wiley   +1 more source

Chemogenetic silencing of the subiculum blocks acute chronic temporal lobe epilepsy

Molecular Brain
Temporal lobe epilepsy (TLE) is the most common form of medically-intractable epilepsy. Subicular hyperexcitability is frequently observed with TLE, presumably caused by impaired inhibition of local excitatory neurons.
Jianbang Lin, Jing Liu, Qi Zhang, Taian Liu, Zexuan Hong, Yi Lu, Cheng Zhong, Zhonghua Lu, Yuantao Li, Yu Hu   +9 more
doaj   +1 more source

Generalized tonic-clonic seizure secondary to duloxetine poisoning: a short report with favorable out come.

, 2012
Duloxetine is a potent and selective inhibitor of serotonin and norepinephrine reuptake (SNRI) with a weak activity over dopamine reuptake used in the treatment of major depressive disorder.
SERRETTI, ALESSANDRO, DE RONCHI, DIANA, Balzarro B., Scaramelli A., Porcelli S., Pellicciari A.   +5 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

Seizures Temporally Associated With SSRI Treatment: A Two-Case Report Exploring Agomelatine as a Treatment Alternative

Case Reports in Psychiatry
Selective serotonin reuptake inhibitors (SSRIs) are widely used as first-line treatments for major depressive disorder (MDD) and anxiety disorders, with common adverse effects, including sexual dysfunction, anxiety, insomnia, and appetite changes ...
José Alfonso Ontiveros Sanchez De La Barquera, Luis Alberto De La Garza Garcia, Guillermo Sanchez Torres, Leopoldo Iván Santacruz Torres, Arturo Alejandro Vera Vidaurri   +4 more
doaj   +1 more source

Lack of evidence for association between D2S124 and D2S111 polymorphisms of the SCN2A gene and idiopathic generalized epilepsy with generalized tonic-clonic seizures

, 2007
Idiopathic generalized epilepsy syndromes are generally considered as brain channelopathies due to alteration of several genes. The aim of our study was to compare the distribution of D2S124 and D2S111 genetic polymorphisms of the SCN2A gene between ...
PALMARINO M, LUCARELLI P, VOLZONE A, RIZZO R, ARPINO C, GAGLIANO, Antonella, CURATOLO P., GAGLIANO A, RIZZO, Renata   +8 more
core   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source

Anesthetic management of a patient with Lennox-Gastaut syndrome with intractable epilepsy -a case report- [PDF]

Korean Journal of Anesthesiology, 2013
A 34-month-old female patient who had a prior history of generalized tonic-clonic seizures had been diagnosed with the Lennox-Gastuat syndrome. She was scheduled for epiblepharon repairs in both lower lids under general anesthesia.
Mi-Na Park, Ji-Yeon Kim
doaj   +1 more source