Voltage-gated sodium channel epilepsies in a tertiary care center: Phenotypic spectrum with correlation to predicted functional effects.

Background: Variants in sodium channel genes (SCN) are strongly associated with epilepsy phenotypes. Our aim in this study to evaluate the genotype and phenotype correlation of patients with SCN variants in our tertiary care center.

Methods: In this retrospective study, patients with SCN variants and epilepsy who were followed up at our clinic between 2018 and 2022 were evaluated.

Shear Wave Elastography in Patients with Spinal Muscular Atrophy Types 2 and 3.

Introduction: This study aimed to investigate selective muscle involvement by shear wave elastography (SWE) in patients with spinal muscular atrophy (SMA) types 2 and 3 and to compare SWE values with magnetic resonance imaging (MRI) in demonstrating muscle involvement.

Methods: Seventeen patients with SMA types 2 and3 were included in the study. SWE was used to evaluate stiffness of the upper and lower extremities and paraspinal muscles.

Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement.

In recent years, with advances in molecular genetics, many new mutations with various ataxic syndromes have been identified. Recently, homozygous sequestosome 1 (SQSTM1) gene variant with a progressive childhood-onset cerebellar ataxia, dystonia and gaze palsy was described. Here we describe a patient with progressive cerebellar ataxia and gaze palsy, as well as myoclonus, cognitive impairment and growth retardation with a homozygous SQSTM1 variant NM_003900.

Evaluation of eating behaviors in childhood epilepsy with centrotemporal spikes: Case-control study.

Background: Psychosocial and behavioral disorders have been reported in childhood epilepsy with centrotemporal spikes (CECTS). We aimed to identify the symptoms of eating disorders in CECTS.

Methods: Patients with CECTS were recruited from the pediatric neurology outpatient clinic between September 2019 and July 2020.

Acute flaccid myelitis outbreak through 2016-2018: A multicenter experience from Turkey.

Aim: We aim to describe the demographic characteristics, etiology, neurophysiology, imaging findings, treatment, prognosis, and prognostic factors of acute flaccid myelitis.

Methods: The clinical data, laboratory test and, magnetic resonance imaging (MRI) results of pediatric patients diagnosed with acute flaccid myelitis according to the Centers for Disease Control criteria between August 1, 2016, and December 31, 2018, from 13 centers in Turkey were reviewed.

Results: Of the 34 cases identified, 31 were confirmed (91.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). Here, we report a detailed cross-sectional analysis of clinical, imaging and molecular data of 156 patients from 101 families. Enrolled patients were of diverse ethnic backgrounds and covered a wide age range (1.

Clinically isolated syndrome and multiple sclerosis in children: a single center study.

Background And Objectives: This study was conducted to determine the differences in clinical and radiological features at the first demyelinating event in children with clinically isolated syndrome (CIS) and multiple sclerosis (MS).

Methods: This was a single center retrospective cohort study of the children with CIS followed-up at Istanbul University Faculty of Medicine, Department of Pediatric Neurology, between 2010 and 2018. Children with CIS who were assessed at 3, 6, 12 and 24 months following their first identified demyelinating event were included.

Evaluation of the prognostic factors in school age children who experienced neonatal seizures.

Background: This prospective study aimed to evaluate long-term neurodevelopmental outcomes and risk factors of the previously reported cohort, at their school age.

Method: We included neonates whose seizures were directly observed by the child neurologist or neonatologist based on clinical observations. They were assessed for cognitive and neurological outcomes at the age of 9-11 years.

Ambulation, lesion level, and health-related quality of life in children with myelomeningocele.

Purpose: The aim is to investigate the health-related quality of life (HRQOL) in children with myelomeningocele (MMC), compare the results with those of healthy children, and determine the factors related to HRQOL.

Methods: Fifty children with MMC with a mean age of 8.96 ± 2.

Autism spectrum disorder and attention-deficit/hyperactivity disorder-related symptoms in benign childhood epilepsy with centrotemporal spikes: A prospective case-control study.

Background: Benign childhood epilepsy with centrotemporal spikes (BECTS), one of the most common idiopathic epilepsy syndromes in children, has been associated with neuropsychological problems.

Purpose: The objective of this study was to investigate the frequency of symptoms related to comorbid neurodevelopmental disorders, the autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) in children with typical BECTS, and to identify corresponding risk factors.

Methods: Children and adolescents with typical BECTS aged 6-16 years were included in the study period from January 1, 2017, to December 31, 2017.

Epileptic spasm and other forms of epilepsy in presumed perinatal arterial ischemic stroke in Turkey after more than 10 years follow-up: A single centre study.

Purpose: To identify the frequency of epilepsy and whether the association of epilepsy with clinical and neuroimaging findings in children with presumed perinatal arterial ischemic stroke (PPAIS).

Methods: We performed a retrospective analysis of 37 children with PPAIS followed-up at a tertiary referral center between January 1, 2000, and October 31, 2016. Clinical data including demographic features, age at onset of symptoms and seizures, initial clinical presentation, epilepsy features, used antiepileptic drugs, and thrombophilia screening results were abstracted from medical records.

Efficacy of rufinamide in childhood refractory epilepsy.

Yıldız EP, Hızlı Z, Bektaş G, Ulak-Özkan M, Tatlı B, Aydınlı N, Çalışkan M, Özmen M. Efficacy of rufinamide in childhood refractory epilepsy. Turk J Pediatr 2018; 60: 238-243.

Short-term neurological outcomes in ischemic and hemorrhagic pediatric stroke.

Background: The aim of this study was to retrospectively assess short-term neurological outcomes in pediatric stroke with regard to patient characteristics.

Methods: Children aged 28 days-18 years with arterial ischemic stroke (AIS), cerebral sinovenous thrombosis (CSVT), and hemorrhagic stroke (HS) between 2007 and 2013 were evaluated. Neurological findings in the first 3 months were accepted as short-term prognosis, and modified Rankin scale was used.

Efficacy of Stiripentol and the Clinical Outcome in Dravet Syndrome.

Dravet syndrome is a rare and progressive epileptic encephalopathy of infancy. Stiripentol reduces the seizure frequency in patients with Dravet syndrome. We evaluated the clinical characteristics of patients with Dravet syndrome and their response to stiripentol.

Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.

Bektaş G, Yeşil G, Yıldız EP, Aydınlı N, Çalışkan M, Özmen M. Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation. Turk J Pediatr 2017; 59: 329-334.

Spinal muscular atrophy with progressive myoclonic epilepsy linked to mutations in ASAH1.

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), a rare disorder caused by mutation in the ASAH1 gene, is characterized by progressive muscle weakness and intractable epilepsy. The literature about SMA-PME is very rare and most of the time limited to case reports. Mutation in the ASAH1 gene is also found in another rare syndrome which is Farber disease.

Predictive factors of drug-resistant epilepsy in children presenting under 2 years of age: experience of a tertiary center in Turkey.

Population-based studies report that children with epilepsy have relatively better prognosis than those with an onset at infancy, though studies about this period are limited. We aimed to evaluate the etiology in infant epilepsy less than 2 years of age and foreseeable risk factors for anti-epileptic drug resistance. We evaluated the patients who were presented to the division of pediatric neurology in our university hospital with seizures when they were between 1 and 24 months of age and diagnosed as epilepsy.

Lacosamide treatment of childhood refractory focal epilepsy: the first reported side effect in paediatric patients.

Purpose: Lacosamide (LCM) is an effective antiepileptic drug (AED) approved for the treatment of focal epilepsy in both children and adults. The aim of this observational study was to review our centre's experience with LCM and to characterise its efficacy and tolerability as an adjunct therapy in children with refractory focal epilepsy.

Methods: We retrospectively reviewed the medical records of 12 paediatric patients who underwent treatment with LCM from January 2014 to December 2015.

The influence of levetiracetam on psychosocial and behavioral functioning in children: A case-control and follow-up study.

Background: Levetiracetam, a widely used antiepileptic drug in children, has been associated with psychosocial and behavioral problems, which are also influenced by epilepsy variables, including duration or seizure frequency.

Purpose: The objective of this study is to investigate the frequency and timing of treatment-emergent psychosocial and behavioral problems in children receiving levetiracetam, irrespective of seizure variables which are possible confounders.

Methods: A prospective, case-control study with a 3-month follow-up was conducted.

Potential risk factors for vitamin D levels in medium- and long-term use of antiepileptic drugs in childhood.

Antiepileptic drugs (AED) have potential side effects through vitamin-D. Prevalence of vitamin D insufficiency and potential risk factors for the longitudinal changes of vitamin D levels compared to its baseline levels under AED treatment were investigated in this study. This retrospective study includes patients whose AED therapy were started in only autumn months, between 2000 and 2014.

Psychosocial and behavioral functioning and their relationship to seizure timing in children with benign epilepsy with centrotemporal spikes.

Background: Psychosocial and behavioral problems have been reported in children with benign epilepsy with centrotemporal spikes (BECTS). Distinctive features of typical BECTS associated with cognitive and behavioral problems have not clearly been defined.

Purpose: We aimed to identify psychosocial and behavioral functioning and their relationship to seizure timing in BECTS.

Coexisting neuronal autoantibodies among children with demyelinating syndromes.

Objectives: To determine the incidence and clinical relevance of neuronal autoantibodies in children with demyelinating syndromes.

Methods: We conducted a prospective study including 31 consecutive children with demyelinating syndromes. Four patients with N-Methyl-D-aspartate receptor (NMDAR) encephalitis, 32 patients with Guillain-Barre syndrome, 13 children with benign childhood epilepsy, and 28 healthy children were used as controls.

Evaluation of fetal subarachnoid space using transabdominal ultrasonography and normal values during pregnancy.

Objectives: To determine the feasibility of evaluating the subarachnoid space by measuring two novel sonographic parameters in axial section using transabdominal ultrasound, in addition to the parameters previously defined in coronal section, and to construct a normal range for the subarachnoid space width in singleton healthy fetuses.

Methods: Healthy pregnant women between 20 and 29 weeks were scanned using transabdominal ultrasound. Four variables were measured for the evaluation of subarachnoid space width; sinocortical width and anterior craniocortical width in coronal plane, and lateral and posterior craniocortical width in axial plane.

Aggravation of atonic seizures by rufinamide: A case report.

Background: Rufinamide is a novel antiepileptic drug used as adjunctive therapy in patients with Lennox-Gastaut syndrome and provides seizure control especially in tonic and atonic seizures. Rufinamide is expected to be effective in intractable epilepsy when atonic and tonic seizures exist. However, rufinamide induced seizure aggravation has been reported in a few patients, which was not associated with a specific type of seizure.