Results 41 to 50 of about 932,591 (309)

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Causal hierarchy within the thalamo-cortical network in spike and wave discharges [PDF]

, 2009
Background: Generalised spike wave (GSW) discharges are the electroencephalographic (EEG) hallmark of absence seizures, clinically characterised by a transitory interruption of ongoing activities and impaired consciousness, occurring during states of ...
Lemieux, L., Vaudano, Anna E., Friston, KJ, Rodionov Roman, Carmichael, D., Thornton, R., Thornton, Rachel, Lemieux, Louis, VAUDANO, Anna Elisabetta, Maxime Guye, Vaudano, A., Vaudanao, A. E., Anna E Vaudano, Carmichael, David W., Hamandi, K., Carmichael David W., Kiebel, SJ, Carmichael, DW, Vaudano Anna E., Vaudano, AE, Guye, M, Hamandi, K, Thornton Rachel, Guye Maxime, Duncan, JS, de la Prida, Liset Menendez, Friston Karl J., Louis Lemieux, Stefan J Kiebel, Rachel Thornton, Rodionov, R, David W Carmichael, Khalid Hamandi, Friston, Karl J., Thornton, R, Duncan, John, Guye, M., Kiebel, Stefan J., Duncan, John S., Rodionov, Roman, Duncan, J., Duncan John S., Lemieux, L, Roman Rodionov, Hamandi Khalid, Kiebel, S., Hamandi, Khalid, Lemieux Louis, Friston, K., Rodionov, R., Laufs, H, Laufs, Helmut, Carmichael, D. W., Helmut Laufs, Laufs, H., John S Duncan, Laufs Helmut, Guye, Maxime, Karl J Friston, Kiebel Stefan J.   +59 more
core   +1 more source

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source

Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes.

PLoS ONE, 2018
Genetic heterogeneity of common genetic generalized epilepsy syndromes is frequently considered. The present study conducted a focused analysis of potential candidate or susceptibility genes for common genetic generalized epilepsy syndromes using multi ...
Cha Gon Lee, Jeehun Lee, Munhyang Lee
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Memory and Resting‐State Connectivity in Acute Transient Global Amnesia: A Case–Control fMRI Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Transient global amnesia (TGA) is a striking model of isolated amnesia. While hippocampal lesions are well described, the network‐level mechanisms and the precise neuropsychological profile remain debated. Our objective was thus to characterize functional and neuropsychological correlates of acute TGA and their ...
Elias El Otmani, Emmanuel Barbeau, Béatrice Lemesle, Emilie Milongo‐Rigal, Sophie Fernandez, Sandrine Charpentier, Jean‐François Albucher, Nicolas Raposo, Fabrice Bonneville, Patrice Péran, Jérémie Pariente   +10 more
wiley   +1 more source

Association mapping of genomic microdeletions and common susceptibility variants predisposing to genetic generalized epilepsies [PDF]

, 2013
Approximately 3% of the general population is affected by epilepsy during lifetime, making epilepsy one of the most common neurological diseases. Genetic generalized epilepsies (GGE) are the most common of genetic epilepsies and account for 20-30% of ...
Trucks, Holger Sebastian
core   +1 more source

Unmasking of myoclonus by lacosamide in generalized epilepsy

Epilepsy and Behavior Case Reports, 2017
Lacosamide is a new-generation antiseizure medication that is approved for use as an adjunctive treatment and monotherapy in focal epilepsy. Its use in generalized epilepsy, however, has not been adequately evaluated in controlled trials.
Daniel Birnbaum, Mohamad Koubeissi
doaj   +1 more source

Genetic analysis of human absence epilepsy [PDF]

, 2010
Idiopathic Mendelian epilepsies have been typically identified as channelopathies. Evidence suggests that mutations in genes encoding GABAA receptors, GABAB receptors or voltage-dependent calcium channels (VDCCs) may underlie childhood absence epilepsy ...
Robinson, R.A.
core  

Hitit University Epilepsy Outpatient Clinic Experience

, 2023
Objective:Although epilepsy can be controlled with treatment; misperceptions are a disease that negatively affects life due to the lack of knowledge about the disease, even in individuals with epilepsy.Methods:Individuals between the ages of 18 and 65 ...
Sinan Eliaçık, Funda Uysal Tan, Elvan Özalp, Serdar Aykaç, Alp Karakaşlı   +4 more
core   +1 more source