Results 81 to 90 of about 28,537 (282)

Causal relations between ischemic stroke and epilepsy: A bidirectional Mendelian randomization study

Heliyon
Background: Although previous studies have reported a bidirectional relationship between ischemic stroke (IS) and epilepsy, the existence of a causal nexus and its directionality remains a topic of controversy.
Zongzhi Jiang, Yining Sun, Ziyi Wang, Songyan Liu   +3 more
doaj   +1 more source

CONSANGUINEOUS MARRIAGE AS RISK FACTOR FOR IDIOPATHIC GENERALIZED EPILEPSY (IGE)

Pakistan Armed Forces Medical Journal, 2021
Objective: To determine the significance of parental consanguinity as a risk factor for idiopathic generalized epilepsies. Study Design: Case control study.
Shumaila Rafique, Tipu Sultan, Shabir Ahmed   +2 more
doaj  

Screening Routine Clinical Notes for Epilepsy Surgery Candidates Using Large Language Models

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Epilepsy surgery is severely underutilized despite proven efficacy, with substantial under‐referral of eligible patients in routine clinical practice. This study evaluated the potential role of large language models (LLMs) as decision‐support tools for screening unstructured clinical notes to identify epilepsy surgery candidates and ...
Uriel Fennig, Nadav Amir, Maya Schiller, Roni Loebenstein, Johnatan Nissan, Marina Boxer, Shany Guly Gofrit, Gal Goshen, Sándor Beniczky, Nicola Maggio   +9 more
wiley   +1 more source

Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations.

, 2023
Objective: Paroxysmal epileptiform abnormalities on electroencephalography (EEG) are the hallmark of epilepsies, but it is uncertain to what extent epilepsy and background EEG oscillations share neurobiological underpinnings. Here, we aimed to assess the
Floor E Jansen (17350138), Dirk JA Smit (9181516), Koen Rademaker (17350129), Bochao D Lin (8536296), Epi25 Collaborative (13118577), Bobby PC Koeleman (10490724), Dennis Lal (455368), Johannes A Carpay (17350126), Dick Schijven (6255968), International League Against Epilepsy Consortium on Complex Epilepsies (16918687), Costin Leu (7947866), Roiza A Rodrigues Baldez (17350132), Jurjen J Luykx (8536323), Alexander W Smith (10534330), Norman Delanty (7895990), Gianpiero Cavalleri (7895525), Orrin Devinsky (356636), Kees PJ Braun (17350135), Remi Stevelink (10534329)   +18 more
core   +1 more source

Genetic variation in PADI6-PADI4 on 1p36.13 is associated with common forms of human generalized epilepsy

, 2021
We performed a genome-wide association study (GWAS) to identify genetic variation associated with common forms of idiopathic generalized epilepsy (GE) and focal epilepsy (FE).
Basehore, Heather, Jonathan P. Bradfield, Sperling, Michael R., Wei, Zhi, Cossette, Patrick, Heather Basehore, Falk W. Lohoff, Grant, Struan F.A., Hakonarson, Hakon, Privitera, Michael D., Lo, Warren, Jacqueline A. French, Hakon Hakonarson, Buono, Russell J., Lohoff, Falk W., Patrick Cossette, Struan F. A. Grant, Dennis J. Dlugos, Dlugos, Dennis J., Thomas N. Ferraro, Ferraro, Thomas N., Steven C. Schachter, French, Jacqueline A., Warren Lo, Bradfield, Jonathan P., Zhi Wei, Schachter, Steven C., Michael D. Privitera, Russell J. Buono, Michael R. Sperling   +29 more
core   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Evolution of genetically determined generalized epilepsies

Epilepsy and paroxysmal conditions, 2019
This article analyzes the available literature regarding the clinical manifestations, genetic determinants, prognosis and evolution of inherited generalized epilepsies. We describe the typical EEG characteristics and their correlations with negative prognostic factors. We also review studies on absence epilepsy of childhood, juvenile myoclonic epilepsy
E. A. Morozova, F. I. Gusyakov
openaire   +3 more sources

How to diagnose and classify idiopathic (genetic) generalized epilepsies

Epileptic Disorders, 2020
AbstractIdiopathic or genetic generalized epilepsies (IGE) constitute an electroclinically well‐defined group that accounts for almost one third of all people with epilepsy. They consist of four well‐established syndromes and some other rarer phenotypes.
Elmali, Ayse Deniz, Auvin, Stephane, Bast, Thomas, Rubboli, Guido, Koutroumanidis, Michalis   +4 more
openaire   +4 more sources

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source