Genetic generalized epilepsy - Open Access .click

Results 101 to 110 of about 2,936,182 (239)

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source

Segregation of seizure traits in C57 black mouse substrains using the repeated-flurothyl model.

PLoS ONE, 2014
Identifying the genetic basis of epilepsy in humans is difficult due to its complexity, thereby underlying the need for preclinical models with specific aspects of seizure susceptibility that are tractable to genetic analyses.
Sridhar B Kadiyala +3 more
doaj +1 more source

Prevalence and characteristics of visual aura in idiopathic generalized epilepsy

, 2012
Some patients with idiopathic/genetic generalized epilepsy (IGE) experience visual aura, which can confuse the diagnosis. We sought to determine the frequency and characteristics of visual auras in IGE patients.
Gungor-Tuncer, Ozlem +5 more
core +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright +10 more
wiley +1 more source

Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

, 2022
Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing ...
Andres Kanner (19909740) +135 more
core

Blood SOD1 Activity in ALS Patients Receiving Tofersen Treatment

Annals of Neurology, EarlyView.
Objective The antisense oligonucleotide tofersen is the first disease‐modifying drug for SOD1‐related amyotrophic lateral sclerosis (ALS) and was approved because of its ability to reduce SOD1 protein and neurofilament levels. The effect of tofersen on SOD1 activity is unclear but of clinical relevance because homozygous SOD1 mutations, linked to ...
Katharina Goehring +18 more
wiley +1 more source

Different Characteristics between the Generalized and Partial Epilepsy Based on the Family History of Epilepsy

مجله دانشکده پزشکی اصفهان, 2016
Background: In etiology of epilepsy, different factors have role and one of them is genetics. This study aimed to investigate the differences between generalized and partial epilepsy based on the family history.
Mohammad Reza Najafi +3 more
doaj

T Cell‐Mediated Targeting of Interneurons in Mice Shapes Hippocampal Remodeling and Epilepsy

Annals of Neurology, EarlyView.
Objective Autoimmune encephalitis (AE) is associated with autoantibodies targeting distinct neuronal populations. In AE, antibodies against glutamate decarboxylase 65 (GAD65), expressed in GABAergic interneurons, are frequently detected. In GAD65‐AE, hippocampal biopsies often show infiltrates of CD8+ cytotoxic T cells (CTLs), suggesting a prominent T ...
Daniel S. Galvis‐Montes +6 more
wiley +1 more source

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies

Epilepsia Open
Objective Genetic testing is now included in the diagnostic assessment of childhood onset epilepsies. We evaluated the yield of a targeted next generation sequencing (TNGS) panel dedicated to pediatric epilepsies.
Giulia Barcia +21 more
doaj +1 more source

Circulating Exosomes Drive Persistent Neuronal Dysfunction in Post‐Herpetic Neuralgia Patients

Annals of Neurology, EarlyView.
Proposed model of exosome‐mediated neuronal dysfunction in post‐herpetic neuralgia (PHN). (1) Circulating, non‐pathogenic exosomes maintain homeostatic processes in healthy skin, where sensory nerve fibers innervate the epidermis and dermis. (2) During acute zoster, reactivating varicella zoster virus (VZV) travels down neurites to the skin causing ...
Christy S. Niemeyer +14 more
wiley +1 more source

epilepsy
idiopathic generalized epilepsy
mendelian randomization

juvenile myoclonic epilepsy
medicine
science

febrile seizure
genetics
generalized epilepsy