The effect of illness-related fears of parents of children with epilepsy during the COVID-19 period on their children's seizure self-efficacy.

Background: Seizure-related self-efficacy is the belief individuals have that they can perform the necessary actions to cope effectively with their seizures. Determining, developing, strengthening, and maintaining the perception of self-efficacy in children with epilepsy facilitates the child's disease management and their ability to cope with it. This study aimed to assess the impact of epilepsy-related parental fears during the COVID-19 period on the seizure self-efficacy of their children.

Evaluation of Serum Advanced Glycation End Product Levels and Microvascular Complications in Children and Adolescents with Type 1 Diabetes Mellitus.

Objective: Advanced glycation end products (AGEs) are irreversible macromolecules formed by nonenzymatic reactions due to chronic hyperglycemia. The aim of this study was to assess the relationship between AGEs and the microvascular complications of children and adolescents with type 1 diabetes mellitus (T1DM).

Materials And Methods: Twenty-six T1DM patients with microvascular complications and 58 complication-naive patients who were similar regarding age, sex, and pubertal status enrolled in the study.

Retrospective evaluation of Guillain-Barre syndrome in children: A single-center experience.

Background: Although Guillain-Barré syndrome (GBS) is now the most common cause of acute flaccid paralysis in children, information on the long-term follow-up of GBS is still limited. Identification of prognostic factors can play an important role in treatment strategies and the follow-up of patients. This study aimed to evaluate the effectiveness of monitoring the GBS disability score (DS) in predicting morbidity and mortality.

Retracted: Clinical and genetic evaluations of rare childhood epilepsies in Turkey's national cohort.

Aycan Ünalp, Yiğithan Güzin, Bülent Ünay, Ayşe Tosun, Dilek Çavuşoğlu, Hande Gazeteci Tekin, Semra Hız Kurul, Ebru Arhan, Selvinaz Edizer, Gülten Öztürk, Uluç Yiş, Ünsal Yılmaz, Turkish Rare Epilepsies Study Group, Clinical and genetic evaluations of rare childhood epilepsies in Turkey's national cohort, Epileptic Disorders, 2023, (https://doi.org/10.1002/epd2.

Changes in awake and sleep electroencephalography characteristics after 1-year treatment for childhood and juvenile absence epilepsy.

Purpose: To compare electroencephalography (EEG) features of newly diagnosed drug-naive childhood absence epilepsy (CAE) and juvenile absence epilepsy (JAE) patients and analyze their response to anti-seizure medications (ASMs).

Method: EEG characteristics between CAE and JAE patients and responders and non-responders to ASM at baseline and 12 months were compared, and the changes from baseline were analysed.

Results: A total of 62 patients (32 CAE and 30 JAE) were included.

Role of serostatus in pediatric neuromyelitis optica spectrum disorders: A nationwide multicentric study.

Background: Neuromyelitis optica spectrum disorders (NMOSD) are immune-mediated inflammatory disorders of the central nervous system (CNS) mostly presenting as optic neuritis and acute myelitis. NMOSD can be associated with seropositivity for aquaporin 4 antibody (AQP4 IgG), myelin oligodendrocyte glycoprotein antibody (MOG IgG), or can be seronegative for both. In this study, we retrospectively examined our seropositive and seronegative pediatric NMOSD patients.

Kidney Stones in Epileptic Children Receiving Ketogenic Diet: Frequency and Risk Factors.

Background: Although it is a valuable option for children with drug-resistant epilepsy, ketogenic diet (KD) therapy is associated with several side effects. The frequency of kidney stones and risk factors for their development in epileptic children receiving KD is unclear. The aim of this study was to determine the frequency and risk factors for the development of renal stones in children receiving KD therapy.

Clinical Features and Management of Status Epilepticus in the Pediatric Intensive Care Unit.

Objectives: Status epilepticus (SE) is associated with significant morbidity and mortality in children. SE in the pediatric intensive care unit (PICU) are not well characterized. The aim of this study is to retrospectively investigate the clinical features and treatment of seizures in children admitted to the PICU of our hospital.

Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.

Background: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses.

Methods: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis.

Pediatric Status Epilepticus Severity Score (STEPSS): Predictive Performance of Functional Outcomes: A Prospective Single-Center Study.

To prospectively investigate the predictive value of the modified Status Epilepticus Severity Score (STESS) for pediatric use (STEPSS) regarding unfavorable outcomes in the short term. Patients diagnosed as status epilepticus in the emergency department between January 2019 and June 2021 at a tertiary center of the University of Health Sciences, Dr. Behcet Uz Children's Hospital, were included in the study.

A rare case of hypomyelinating leukodystrophy-14 benefiting from ketogenic diet therapy.

Background: Hypomyelinating leukodystrophy-14 (HLD14) is a rarely seen neurodevelopmental disease caused by homozygous pathogenic ubiquitin-fold modifier 1 gene variants. The disease has an autosomal recessive inheritance. All patients with this condition reported to date have drug-resistant epilepsy.

Evaluation of Quality of Life and Psychiatric Aspects of Children with Epilepsy and Their Families Using Self-assessment Questionnaires.

Objective: The aim of this study was to compare sociodemographic characteristics, quality of life, and levels of depression and anxiety of children with epilepsy and their families with a healthy control group.

Materials And Methods: In this study, 60 epileptic children and their families were included. The data of these patients were compared with 51 healthy children and their families.

Psychometric properties of the Turkish version of the Epilepsy Disclosure Scale - Youth and Parent Versions.

Aim: Due to reactions, such as being ridiculed, blamed, or rejected, children with epilepsy and their families may consider epilepsy as something to be ashamed of, and therefore both the child and parents hide the disease from other people. No valid and reliable measurement in Turkish language that evaluates the level of this behavior, which will greatly affect the management of epilepsy, in both children and parents has been found in the literature. This study was carried out to test the validity and reliability of the Epilepsy Disclosure Scale (EDS) - Youth and Parent Versions in Turkey.

Functional divergence of the two Elongator subcomplexes during neurodevelopment.

The highly conserved Elongator complex is a translational regulator that plays a critical role in neurodevelopment, neurological diseases, and brain tumors. Numerous clinically relevant variants have been reported in the catalytic Elp123 subcomplex, while no missense mutations in the accessory subcomplex Elp456 have been described. Here, we identify ELP4 and ELP6 variants in patients with developmental delay, epilepsy, intellectual disability, and motor dysfunction.

Spinal muscular atrophy with respiratory distress type 1 (SMARD1): a rare cause of hypotonia, diaphragmatic weakness, and respiratory failure in infants.

Background: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a very rare autosomal recessive disorder caused by mutations in the immunoglobulin μ-binding protein-2 (IGHMBP2) gene on chromosome 11q13.2-q13.4.

The effectiveness of the ketogenic diet in drug-resistant childhood epilepsy.

Background: We aimed to investigate the effectiveness of ketogenic diet (KD) in children with various types of refractory epilepsy.

Methods: A total of 91 children (49 females) aged 3 to 193 months (median, 52 months) with drug resistant epilepsy who received KD treatment for at least 12 months were enrolled in the study. Seizure frequency, adherence to diet, reason for discontinuation of KD, and adverse effects were recorded.

Detection of Deregulated miRNAs in Childhood Epileptic Encephalopathies.

The term "epileptic encephalopathy" is used to describe a possible relationship between epilepsy and developmental delay. The pathogenesis of developmental encephalopathies, independent of epilepsy, can be defined by genetic control mechanisms. The aim of this study was to investigate the use of miRNAs as serum biomarkers for the determination and discrimination of epileptic encephalopathies.

OCLN gene variants identified in three patients with severe neurodevelopmental disorder associated with epilepsy, intellectual disability and malformation of cortical development.

Homozygous OCLN variants have been reported in patients with band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) which is characterized by microcephaly, intracranial calcification and severe developmental delay. The OCLN gene encodes the integral membrane protein, occludin. Herein, we report three additional cases with homozygous OCLN variants that were identified via Trio-WES in two consanguineous unrelated families.

Evaluation of the effects of ketogenic diet therapy on sleep quality in children with drug-resistant epilepsy and their mothers.

Background: Sleep disorders are common in drug-resistant children with epilepsy and their mothers. Ketogenic diet therapy (KDT) may have positive effects on sleep quality. The aim of this study was to evaluate the sleep quality of children with epilepsy and their mothers after starting KDT.

Psychometric properties of a Turkish version of the quality of life in childhood epilepsy questionnaire.

Background: Epilepsy is a neurological disease that requires long-term treatment and monitoring and causes significant restrictions in physical, emotional, intellectual, and social life that negatively affect the quality of life of the individual. This study aimed to test the validity and reliability of the Quality of Life in Childhood Epilepsy Questionnaire in Turkey.

Methods: The study was conducted on 421 parents using a descriptive correlational method.

The effect of ketogenic diet on serum lipid concentrations in children with medication resistant epilepsy.

Background: Ketogenic diet (KD) is a valuable treatment option for patients with medication-resistant epilepsy. It is associated with a number of side effects. However limited data are available for the long-term effects of KD on serum lipid levels.

The effect of ketogenic diet on thyroid functions in children with drug-resistant epilepsy.

Background: Ketogenic diet (KD) remains a valuable treatment option for children with drug-resistant epilepsy. However, it may cause many well-known adverse effects such as dyslipidemia or kidney stones. But, its effects on thyroid functions are largely unknown.