KBG syndrome: A scoping review of electroclinical features of patients with epilepsy
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
Rare genetic variation in adults with surgically treated temporal lobe epilepsy: An exome sequencing study. [PDF]
Pirker AP +12 more
europepmc +1 more source
Abstract Objective Traumatic brain injury (TBI) is a leading cause of acquired epilepsy, death, and long‐term disability, yet reliable biomarkers to predict chronic sequelae such as post‐traumatic epilepsy (PTE) remain limited. We evaluated the associations between circulating blood biomarkers of neuronal, glial, and synaptic injury and the subsequent ...
Michele Longoni Calió +11 more
wiley +1 more source
Abstract Objective Epilepsy with eyelid myoclonia is a childhood‐onset generalized epilepsy syndrome with variable recognition of eyelid myoclonia, eye‐closure sensitivity, and photosensitivity during follow‐up. We aimed to characterize longitudinal clinical and electroencephalographic features in pediatric epilepsy with eyelid myoclonia, focusing on ...
Hande Aygün +3 more
wiley +1 more source
Electroencephalogram Utilization, Epileptiform Findings, and Associated Factors Among Children with Epilepsy in Southwestern Uganda: A 5-Year Retrospective Record Review. [PDF]
Okumu F +6 more
europepmc +1 more source
Abstract Objective Rasmussen's encephalitis (RE) is a rare and progressive, immune‐mediated epileptic encephalopathy characterized by drug‐resistant seizures and neurological decline. While hemispheric disconnection (HD) is the gold standard treatment for effective seizure control, this procedure carries significant risk of permanent neurological ...
Krish Nair +11 more
wiley +1 more source
Catecholaminergic polymorphic ventricular tachycardia with diagnostic difficulty differentiating seizures from syncope: a case report. [PDF]
Akiba T +5 more
europepmc +1 more source
Genomic Reanalysis of Neurodevelopmental Disorders With and Without Epilepsy: Diagnostic Yield and Mechanisms of Newly Established Diagnoses. [PDF]
Yoon DH, Seol CA, Rhim JW, Han JY.
europepmc +1 more source
A decade later: a longitudinal retrospective cohort study of the clinical course of childhood-onset epilepsy in a multi-ethnic tertiary centre. [PDF]
Tan JE +11 more
europepmc +1 more source
Pediatric new‐onset seizure‐like events: Yield of diagnostic work‐up
Abstract Objective To assess the diagnostic yield of ancillary investigations in children presenting with new‐onset seizure‐like events (SLEs) at a tertiary first seizure clinic (FSC). Methods We conducted a retrospective cohort study including 1213 children evaluated for new‐onset SLEs at a tertiary FSC.
Geertruida Slinger +8 more
wiley +1 more source

