Dystonia caused by ANO3 variants is due to attenuated Ca influx by ORAI1.

Background: Dystonia is a common neurological hyperkinetic movement disorder that can be caused by mutations in anoctamin 3 (ANO3, TMEM16C), a phospholipid scramblase and ion channel. We previously reported patients that were heterozygous for the ANO3 variants S651N, V561L, A599D and S651N, which cause dystonia by unknown mechanisms.

Methods: We applied electrophysiology, Ca measurements and cell biological methods to analyze the molecular mechanisms that lead to aberrant intracellular Ca signals and defective activation of K channels in patients heterozygous for the ANO3 variants.

What is the impact of etiology, lead time to treatment, and parental awareness on outcomes in infantile epileptic spasm syndrome?

Objective: Infantile epileptic spasm syndrome (IESS) is a kind of developmental epileptic encephalopathy that can lead to severe outcomes, including drug-resistant epilepsy and impaired neurodevelopment. The underlying etiology, early diagnosis, and adequate treatment impact the outcome. Our study focused on examining the factors that influence the prognosis and the level of knowledge among families regarding IESS.

Report from the child neurology education and training workshop at the International Child Neurology Congress 2024: Expert'saddressing the training gap.

This report summarizes the key findings of a workshop undertaken at the International Child Neurology Congress in 2024 by child neurologists with expertise in training education and invested colleagues. The workshop aimed to explore global issues which have impact on access to child neurology training. The major findings supported a great need for more training programs globally, that consensus is needed for the minimum standards of training, and that training programs can be strengthened via global health partnerships especially with collaborations from regions with more available resources.

Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective study.

Objectives: This study aimed to evaluate seizure semiology, electroencephalogram (EEG), magnetic resonance imaging (MRI), and genetic findings, as well as treatment choices in Rett syndrome (RTT).

Methods: A retrospective analysis was conducted on one hundred and twenty cases diagnosed with RTT with a genetic mutation. Data were obtained from nine participating centers.

A Multicenter Study of Self-Limited Epilepsy With Centrotemporal Spikes: Effectiveness of Antiseizure Medication With Respect to Spike-Wave Index.

Background: There is no certain validated electroencephalographic (EEG) parameters for outcome prediction in children with self-limited epilepsy with centrotemporal spikes. To assess the effectiveness of antiseizure medication (ASM) for seizure outcome with respect to the spike-wave index (SWI) on serial EEG recordings.

Methods: In this multicenter study, the study cohort consisted of 604 children with self-limited epilepsy with centrotemporal spikes.

Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia.

Anoctamin 3 (ANO3) belongs to a family of transmembrane proteins that form phospholipid scramblases and ion channels. A large number of ANO3 variants were identified as the cause of craniocervical dystonia, but the underlying pathogenic mechanisms remain obscure. It was suggested that ANO3 variants may dysregulate intracellular Ca2+ signalling, as variants in other Ca2+ regulating proteins like hippocalcin were also identified as a cause of dystonia.

Access to Pediatric Neurology Training and Services Worldwide: A Survey by the International Child Neurology Association.

Pediatric neurology is the medical subspecialty responsible for diagnosing and managing diseases and disorders of the nervous system in childhood and adolescence. In many, but not all, regions of the world, the discipline of pediatric neurology is recognized as a specialty or subspecialty of either neurology or pediatrics. Significant knowledge and competencies in this area are necessary to be effective in clinical practice.

The effectiveness and tolerability of clobazam in the pediatric population: Adjunctive therapy and monotherapy in a large-cohort multicenter study.

Objective: To evaluate the effectiveness and tolerability of clobazam therapy in the pediatric population in terms of seizure semiology, epileptic syndromes, and etiological subgroups.

Methods: A retrospective cohort study was conducted consisting of 1710 epileptic children from eight centers in seven geographic regions of Turkey. The initial efficacy of clobazam therapy was evaluated after three months of treatment.

Trends in the choice of antiseizure medications in juvenile myoclonic epilepsy: A retrospective multi-center study from Turkey between 2010 and 2020.

Purpose: Valproic acid (VPA) is frequently used and effective in juvenile myoclonic epilepsy (JME). Recently, levetiracetam (LEV) has been suggested as a monotherapy in JME. This study aimed to evaluate antiseizure medication (ASM) use in patients with JME.

Is There a Tendency for Autoimmunity in Neurofibromatosis Type 1? -Case Reports.

Autoimmune diseases have been reported in association with neurofibromatosis type 1 (NF1) in adults. Two children with NF1 and concurrent autoimmune diseases: antimuscle-specific kinase antibody-positive myasthenia and juvenile idiopathic arthritis are reported. The possible mechanisms of autoimmunity in NF1, particularly dysregulation in T lymphocyte proliferation and exposure to free DNA were discussed.

Screening traumatic life events in preschool aged children: cultural adaptation of Child and Adolescent Trauma Screen (CATS) Caregiver-report 3-6 years version.

Background: Given the high prevalence of potentially traumatic events (PTEs), pediatric providers are in a novel position in early identification and referral of the children with PTEs. Yet paucity of culturally adapted instruments to screen PTEs and related symptoms in preschool-aged children limits pediatric providers. This multicenter study aimed to screen the traumatic life events of preschool-aged children admitted to pediatric outpatient clinics at four different cities of Turkey and to determine the socio-demographic risk factors associated with PTEs.

Diffuse Alveolar Damage Correlation with Clinical Diagnosis of Pediatric Acute Respiratory Distress Syndrome.

Diffuse alveolar damage (DAD) is one of the pathological hallmarks of acute respiratory distress syndrome (ARDS). We aimed to compare pathological findings of DAD with clinical ARDS criteria. We re-evaluated 20 patients whose clinical autopsy revealed DAD.

Maternal Germline Mosaicism of a TUBB2B Mutation Leads to Complex Cortical Dysplasia in Two Siblings.

Complex cortical dysplasia with other brain malformations-7 (a.k.a.

Epilepsy in neurofibromatosis type 1: Diffuse cerebral dysfunction?

Introduction: Neurofibromatosis type 1 (NF1) is accompanied by epileptic seizures in 4-7% of patients. We examined clinical, electrophysiological, and radiological features associated with epilepsy in our NF1 series in order to identify risk factors.

Methods: We reviewed data of 641 pediatric patients with NF1 diagnosis according to National Institutes of Health (NIH) criteria in Hacettepe University records from January 2008-August 2018.

Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect.

MBOAT7 gene codes O-acyltransferase domain containing seven proteins which is one of four enzymes involved in remodeling of phosphoinositol phosphate (PIP) in LANDs cycle. We present clinical, neuroimaging, and genetic findings of 12 patients from 7 families with MBOAT7 gene defect, a recently defined novel phospholipid remodelling disease. To the best of our knowledge, our case series is the second report on patients with MBOAT7 gene defect.

Autoimmune Epilepsy and/or Limbic Encephalitis Can Lead to Changes in Sleep Spindles.

Introduction: Sleep disorders have been described in patients with autoimmune limbic encephalitis (LE). The changes in sleep structure were also reported. Recently sleep spindle abnormalities such as asynchronous or prolonged spindles were observed children with LE.

Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span.

Hereditary spastic paraplegias (HSPs) are a group of genetic disorders resulting in pyramidal tract impairment, predominantly in lower limbs. KIF1C gene has recently been identified as one of the genetic causes of HSP and associated with pure or complicated HSP. We present three patients with complicated HSP from two unrelated families, who had early onset progressive cerebellar signs and developed pyramidal tract signs during follow-up.