Neonatal/infantile-onset genetic epilepsies: The utility of genetic testing for molecular etiology-specific diagnosis concerning therapeutic implications.

Objective: To evaluate the significance of genetic testing in neonatal- and infantile-onset genetic epilepsies (NIGEP) for enhanced molecular diagnosis with management implications.

Methods: A single-center cohort of 128 patients with NIGEP (aged 0-36 months) from 2010 to 2022 was retrospectively assessed. The diagnostic utility of genetic testing, including next-generation sequencing (NGS) and chromosome-based approaches, was surveyed to determine their impact on antiseizure medication adjustments and precision medicine.

Comparison of the three scoring models (STEPSS, mSTEPSS, and END-IT) for outcome characteristics in a pediatric status epilepticus cohort.

Background: Various scoring models have been developed to predict outcomes in pediatric status epilepticus (SE) OBJECTIVES: To compare a set of scoring models for predictivity of outcome characteristics in a single-center pediatric SE cohort.

Patients And Methods: Three SE scoring models (STEPSS, mSTEPSS, and END-IT) were retrospectively evaluated for outcome characteristics in a cohort including 240 children. The areas under curves (AUC) were calculated for the models: short-term outcome with in-hospital mortality, progression to refractory / super-refractory SE, poor outcome at hospital discharge with modified Rankin scale (mRS), and long-term functional outcome with the scores of pediatric overall performance category (POPC) scale at 2-years of follow-up.

A Rare Pediatric Case of COVID-19-Associated Guillain-Barré Syndrome With Multiple Cranial Neuropathies and Without Pulmonary Symptoms.

Coronavirus disease (COVID-19) is a disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) that primarily affects the respiratory system but can also lead to neurological complications such as Guillain-Barré syndrome (GBS). This case report describes an eight-year-old boy with COVID-19-associated GBS involving multiple cranial nerves (third, seventh, and ninth) without pulmonary symptoms. The patient initially presented with flu-like symptoms along with right facial paralysis, which progressed to bilateral facial paralysis, limb weakness, and sensory loss.

The role of serum zinc and selenium levels in etiology of febrile seizures.

Background: Febrile seizures (FSs) are the most common form of childhood seizures. Determining the role of trace elements in the pathophysiology of FSs will contribute to the management of FSs by pediatricians.

Purpose: This study aimed to investigate the effects of zinc and selenium on the nervous system and how they may influence the risk of FSs.

Therapeutic implications of etiology-specific diagnosis of early-onset developmental and epileptic encephalopathies (EO-DEEs): A nationwide Turkish cohort study.

Objective: To evaluate the etiology-specific diagnosis of early-onset developmental epileptic encephalopathies (EO-DEEs) in a nationwide Turkish cohort to determine the implications for therapeutic management.

Methods: The cohort comprised 1450 patients who underwent EO-DEE. The utility of genetic testing was assessed with respect to the initial phases of next generation sequencing (NGS) (2005-2013) and the current NGS era (2014-2022).

The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era.

Background: To evaluate the utility of genetic testing for etiology-specific diagnosis (ESD) in infantile epileptic spasms syndrome (IESS) with a step-based diagnostic approach in the next-generation sequencing (NGS) era.

Methods: The study cohort consisted of 314 patients with IESS, followed by the Pediatric Neurology Division of Ege University Hospital between 2005 and 2021. The ESD was evaluated using a step-based approach: step I (clinical phenomenology), step II (neuroimaging), step III (metabolic screening), and step IV (genetic testing).

Assessment of Prognostic Factors and Validity of Scoring Models in Childhood Autoimmune Encephalitis.

Objective: The aim of this study is to evaluate the prognostic factors in a single-center pediatric cohort with autoimmune encephalitis.

Materials And Methods: The study group consisted of 23 pediatric autoimmune encephalitis patients (seropositive autoimmune encephalitis: 15, seronegative autoimmune encephalitis: 8). Five group prognostic parameters were evaluated: clinical manifestations, elect roenc ephal ograp hy features, magnetic resonance imaging characteristics, biomarkers, and treatment modalities.