Results 181 to 190 of about 509 (261)

Clinical utility and genetic landscape of exome sequencing in a large pediatric epilepsy cohort: Insights from a Turkish tertiary care center

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer   +4 more
wiley   +1 more source

Social, mobility and contact networks in shaping health behaviours and infectious disease dynamics: a scoping review. [PDF]

open access: yesInfect Dis Poverty
Cheng Z   +7 more
europepmc   +1 more source

Peripheral inflammatory markers and metabolic profiles in temporal lobe epilepsy and functional dissociative seizures

open access: yesEpileptic Disorders, EarlyView.
Abstract Background Temporal lobe epilepsy (TLE) and functional dissociative seizures (FDS) are distinct conditions that share overlapping clinical, neuropsychiatric, and biological features, including depressive symptoms, obesity‐related metabolic dysregulation, and alterations in systemic inflammatory markers.
Betül Merd   +4 more
wiley   +1 more source

Efficacy of fenfluramine in a pediatric epilepsy patient with a pathogenic SV2A variant: A case report

open access: yesEpileptic Disorders, EarlyView.
Abstract Pathogenic SV2A gene variants have been reported as causes of epilepsy and are often associated with drug resistance and susceptibility to fever‐related seizures. No highly effective treatments have been established for this condition. We report a female patient with a family history of epilepsy who developed generalized seizures associated ...
Takayuki Mori   +4 more
wiley   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

open access: yesEpileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini   +6 more
wiley   +1 more source

Management of ring chromosome 20 syndrome: Narrative review and consensus recommendations

open access: yesEpilepsia, EarlyView.
Abstract Ring chromosome 20 (ring 20) is a rare genetic condition usually presenting as developmental and epileptic encephalopathy. The disease is caused by fusion of the long and short arms of chromosome 20. Patients are symptomatic even if there is no loss of genetic material.
Asma Khamis   +8 more
wiley   +1 more source

Low diagnostic yield of presurgical genetic testing in adult patients with epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective To determine the diagnostic yield of genetic testing in patients undergoing presurgical evaluation for epilepsy. Methods We conducted a cohort study including 115 adult patients who underwent presurgical evaluation in the Calgary Epilepsy Program between 2019 and 2023 and who had undergone research exome sequencing.
Clara Jünemann   +16 more
wiley   +1 more source

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