Epileptic Encephalopathy of Unknown Cause in Turkey Indicates a New Homozygous Gene Variant.

Introduction: As with many genetic diseases, the diagnostic role of next-generation sequencing is invaluable for early-onset epileptic encephalopathies. SNARE proteins in synaptic vesicles (synaptobrevin-2) and synaptic plasma membrane (syntaxin-1, SNAP-25) are involved in synaptic exocytosis and recycling.

Patient Presentation: Here, we report a patient that started in early childhood with seizures resistant to antiepileptic drugs, then developed epileptic encephalopathy.

Evaluation of GFAP, S100B, and UCHL-1 Levels in Children With Refractory Epilepsy.

Introduction: A number of biomarkers are used to evaluate the duration of the epileptic seizure and the interictal period following neuronal injury. Invasive diagnostic methods are increasingly being replaced by peripheral or minimally invasive biomarkers that give results faster and are more secure.

Purpose: We aimed to evaluate serum glial fibrillary acidic protein (GFAP), S100B, and ubiquitin C-terminal hydrolase (UCHL-1) levels in children with epilepsy.

Neurocognitive effects and electrophysiological findings in ADHD and self-limiting centrotemporal spike wave epilepsy (SeLECTS) - A prospective tertiary care study.

Objective: The study aimed to determine the prevalence of attention deficit hyperactivity disorder (ADHD) in patients with self-limiting epilepsy with centrotemporal spike wave (SeLECTS), as well as the electroclinical features associated with this comorbid condition and the neurocognitive effects using psychometric tests. Additionally, we analysed the electrophysiological findings and neurocognitive status of patients with ADHD to estimate the prevalence of epilepsy and neurocognitive effects in the ADHD population and evaluate their clinical features.

Method: The study included patients diagnosed with SeLECTS and ADHD who were matched for age and gender.

Optic neuritis in Turkish children and adolescents: A multicenter retrospective study.

Background: Various etiologies may underlie optic neuritis, including autoantibody-mediated disorders described in the last decade. We re-examined demographic, clinical, laboratory features and prognostic factors in pediatric patients with autoimmune optic neuritis according to current knowledge.

Methods: Cases of pediatric ON from 27 centers in Türkiye diagnosed between 2009 and 2022 were included for retrospective evaluation.

A multicenter study of radiologically isolated syndrome in children and adolescents: Can we predict the course?

Objectives: To evaluate clinical characteristics, imaging features and etiological profile of Radiologically Isolated Syndrome (RIS) along with clinical and radiological follow-up.

Methods: Demographic, clinical and radiological data of patients younger than 18 years fulfilling the criteria for RIS were retrospectively analyzed. RIS was defined by the detection of lesions meeting the revised 2010 McDonald Criteria for dissemination in space on magnetic resonance imaging (MRI) in the absence of any symptoms of demyelinating disease or an alternative cause for the MRI findings.

Two case reports and a literature review of typical GBS and rare GBS variants associated with COVID-19.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) emerged in late 2019, and is the infectious agent that caused the coronavirus disease 2019 (COVID-19) pandemic. Although respiratory and gastrointestinal manifestations of SARS-CoV-2 are well defined, the spectrum of neurological involvement is less defined. The classic type of Guillain-Barré syndrome (GBS) progresses over days to weeks and has a monophasic course.