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Showing 20 of 26 academic articles

The burden and determinants of cognitive impairment among individuals with chronic diseases in Ethiopia: A systematic review and meta-analysis

Addisu Getie, Melaku Bimerew, Mihretie Gedfew, Baye Tsegaye Amlak et al. • Archives of Gerontology and Geriatrics Plus (2025)

Introduction: Cognitive impairment is a medical condition caused by neurodegeneration, marked by a gradual decline in neurological, motor, psychological, and cognitive domain functions, as well as daily activities. It primarily affects indi...

DOAJ Open Access (DOAJ) DOI: 10.1016/j.aggp.2025.100171

De novo SCN1A missense variant in a patient with Parkinson’s disease

Majed Alluqmani, Abdulfatah M. Alayoubi, Jamil A. Hashmi, Jamil A. Hashmi et al. • Frontiers in Genetics (2024)

BackgroundVariants in a gene encoding sodium voltage-gated channel alpha subunit 1 (SCN1A) are known to cause a broad clinical spectrum of epilepsy and associated features, including Dravet syndrome (MIM 607208), non-Dravet developmental an...

DOAJ Open Access (DOAJ) DOI: 10.3389/fgene.2024.1496683

Cracking rare disorders: a new minimally invasive RNA-seq protocol

Laurenz De Cock, Erika D’haenens, Lies Vantomme, Lynn Backers et al. • npj Genomic Medicine (2025)

Abstract RNA sequencing (RNA-seq) has become key to complementing exome and genome sequencing for variant interpretation. We present a minimally invasive RNA-seq protocol using short-term cultured peripheral blood mononuclear cells (PBMCs) ...

DOAJ Open Access (DOAJ) DOI: 10.1038/s41525-025-00502-7

Identification of brain regions predicting epileptogenesis by serial [18F]GE-180 positron emission tomography imaging of neuroinflammation in a rat model of temporal lobe epilepsy

Vera Russmann, Matthias Brendel, Erik Mille, Angela Helm-Vicidomini et al. • NeuroImage: Clinical (2017)

Excessive activation of inflammatory signaling pathways seems to be a hallmark of epileptogenesis. Positron emission tomography (PET) allows in vivo detection of brain inflammation with spatial information and opportunities for longitudinal...

DOAJ Open Access (DOAJ) DOI: 10.1016/j.nicl.2017.04.003

A neural-network-based detection of epilepsy

Vivek Prakash Nigam, Daniel Graupe • Neurological Research (2004)

Diagnosis of epilepsy is primarily based on scalp-recorded electroencephalograms (EEG). Unfortunately the long-term recordings obtained from 'ambulatory recording systems' contain EEG data of up to one week duration, which has introduced ne...

OPENALEX DOI: https://doi.org/10.1179/016164104773026534

Case Report: Tocilizumab in pediatric febrile infection-related epilepsy syndrome

Lingyu Pang, Lingyu Pang, Lingyu Pang, Xuefang Liu et al. • Frontiers in Immunology (2026)

Background and purposeWe describe the clinical characteristics and the therapeutic effect of tocilizumab with Febrile Infection-Related Epilepsy Syndrome (FIRES). FIRES is characterized by super refractory status epilepticus (SRSE) in previ...

DOAJ Open Access (DOAJ) DOI: 10.3389/fimmu.2026.1767388