Results 121 to 130 of about 28,537 (282)

Calpain 7 as a novel candidate gene in genetic generalized epilepsy [PDF]

Iranian Journal of Basic Medical Sciences
Objective(s): Genetic generalized epilepsy (GGE) is a common subtype of epilepsy characterized by generalized seizure types, with an unclear etiology and recognized genetic contribution to its susceptibility.
Faezeh Jamali, Mohammad Shariati, Mohammadtagi Farzadfard, Juliane Winkelmann, Mohsen Foroughipour, Mir Salar Kahaei, Ariane Sadr-Nabavi, Michael Zech   +7 more
doaj   +1 more source

Clinical Outcomes and Patient Experiences With Celiprolol Therapy in Vascular Ehlers–Danlos Syndrome: The First Non‐European Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura, Tomomi Yamaguchi, Tomoki Kosho   +2 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, Shima Saeidi, Shahrzad Nematollahi, Rokhsareh Meamar   +3 more
doaj  

Status epilepticus in patients with genetic generalized epilepsy: a case series study. [PDF]

Acta Epileptol, 2023
Hu G, Wang B, Chen B, Wang Z, Chen Z, Liu Y.   +5 more
europepmc   +1 more source

Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy

Free Radical Biology and Medicine, 2017
Increased oxidative stress has been widely implicated in the pathogenesis in various forms of human epilepsy. Here, we report a homozygous mutation in TXNRD1 (thioredoxin reductase 1) in a family with genetic generalized epilepsy. TXNRD1 is an essential selenium-containing enzyme involved in detoxification of reactive oxygen species (ROS) and redox ...
Kudin, AP, Baron, G, Zsurka, G, Hampel, KG, Elger, CE, Grote, A, Weber, Y, Lerche, H, Thiele, H, Nurnberg, P, Schulz, H, Ruppert, AK, Sander, T, Cheng, Q, Arner, ESJ, Schomburg, L, Seeher, S, Fradejas-Villar, N, Schweizer, U, Kunz, WS   +19 more
openaire   +3 more sources

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard, Laura Farach, Hope Northrup, Sarah L. Wilson, Deborah Pearson, Syed Hashmi, Kate Richardson   +6 more
wiley   +1 more source

Long-term follow-up of adult patients with genetic generalized epilepsy with typical absence seizures and generalized paroxysmal fast activity in their EEG

, 2014
WOS: 000341558600005PubMed ID: 24908140Purpose: Generalized paroxysmal fast activity (GPFA), an EEG pattern with variable frequency and duration, is usually noted in symptomatic/cryptogenic generalized epilepsies.
Matur, Zeliha, Baykan, Betul, Bebek, Nerses, Aydin-Ozemir, Zeynep, Gurses, Candan, Gokyigit, Aysen   +5 more
core   +1 more source

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain, Hope Northrup, Laura S. Farach, Sureni V. Mullegama, Kathleen Shields, Gretchen Von Allmen, Kate Richardson   +6 more
wiley   +1 more source

Multi-spectral diffusion MRI mega-analysis in genetic generalized epilepsy: Relation to outcomes. [PDF]

Neuroimage Clin, 2023
Kreilkamp BAK, Stier C, Rauf EH, Martin P, Ethofer S, Lerche H, Kotikalapudi R, Marquetand J, Dechent P, Focke NK.   +9 more
europepmc   +1 more source