Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the cerebellum and pons. We aimed to identify the clinical, laboratory, and imaging findings of the patients with diagnosed PCH with confirmed genetic analysis. We collected available clinical data, laboratory, and imaging findings in our retrospective multicenter national study of 64 patients with PCH in Turkey. The genetic analysis included the whole-exome sequencing (WES), targeted next-generation sequencing (NGS), or single gene analysis. Sixty-four patients with PCH were 28 female (43.8%) and 36 (56.3%) male. The patients revealed homozygous mutation in 89.1%, consanguinity in 79.7%, pregnancy at term in 85.2%, microcephaly in 91.3%, psychomotor retardation in 98.4%, abnormal neurological findings in 100%, seizure in 63.8%, normal biochemistry and metabolic investigations in 92.2%, and dysmorphic findings in 51.2%. The missense mutation was found to be the most common variant type in all patients with PCH. It was detected as CLP1 (n = 17) was the most common PCH related gene. The homozygous missense variant c.419G > A (p.Arg140His) was identified in all patients with CLP1. Moreover, all patients showed the same homozygous missense variant c.919G > T (p.A307S) in TSEN54 group (n = 6). In Turkey, CLP1 was identified as the most common causative gene with the identical variant c.419G > A; p.Arg140His. The current study supports that genotype data on PCH leads to phenotypic variability over a wide phenotypic spectrum.

Evaluation of anti-seizure medications and their serum concentration with regard to cardiovascular risk parameters: A cross-sectional study.

OBJECTIVE: Epilepsy is a chronic disease that requires long-term monitoring and treatment. It is suspected that there is a interaction between the use of anti-seizure medications and the risk of cardiovascular disease. The aim of the study is to investigate the association between the intake of phenobarbital, carbamazepine and valproic acid and their serum drug concentrations (SDC) with various cardiovascular risk parameters (homocysteine, folic acid, vitamin B12, total cholesterol (TC), triglycerides, high- and low-density lipoprotein (LDL)). METHODS: This is a cross-sectional study. Data (demographic characteristics and laboratory results) of patients treated for epilepsy in a tertiary care hospital between January 2020 and February 2022 were analyzed retrospectively (n = 2014). Kruskal Wallis, Mann-Whitney U, correlation analysis was used, p < 0.05 was considered statistically significant. RESULTS: The median age of patients was 15 years (IQR:8-31) and 48.3 % were women. The highest homocysteine level was found in patients receiving valproic acid, but it was not statistically significant. Patients receiving phenobarbital had the highest levels of folic acid and B12 and the lowest levels of total cholesterol and low-density lipoprotein cholesterol, which was statistically significant. In patients receiving carbamazepine, a moderately negative significant association was found between serum drug concentration and folic acid levels and a moderately positive significant association was found between TC and LDL levels. CONCLUSION: In our study, the majority of patients were children and adolescents. Regular monitoring of drug serum concentrations and metabolic parameters may be useful to select the safest drug in terms of cardiovascular disease risk. Randomized controlled trials on the long-term effects of anti-seizure treatment are needed.

Clinical outcome in an infant with anti-NMDA receptor encephalitis: case report and literature review.

Anti N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune disease that often presents with various neurological and neuropsychiatric symptoms. Although most reported cases occur in children, only a limited number of studies on children are available. The subject of this case report is an 8-month-old female who presented with fever, vomiting, and seizure. She was diagnosed with encephalitis and treated with acyclovir. After 21 days, she showed irritability, seizure, orolingual-facial dyskinesias, choreodystonic movements, hemiparesis, dysphagia, strabismus, lack of interest in light and objects. Clinical signs, neuroimaging findings, and serum analysis of anti-NMDAR antibodies confirmed the diagnosis of anti-NMDAR encephalitis. After the first line of treatment, she showed full recovery. We update the infants with anti-NMDAR encephalitis in the literature. Clinical outcomes suggest that patients with anti-NMDAR encephalitis are mostly poor in the infants, excluding our case. We propose that early and appropriate treatments are critical for timely diagnosis and rapid improvement.

Evaluation of immunization status in patients with cerebral palsy: a multicenter CP-VACC study.

Children with chronic neurological diseases, including cerebral palsy (CP), are especially susceptible to vaccine-preventable infections and face an increased risk of severe respiratory infections and decompensation of their disease. This study aims to examine age-appropriate immunization status and related factors in the CP population of our country. This cross-sectional prospective multicentered survey study included 18 pediatric neurology clinics around Turkey, wherein outpatient children with CP were included in the study. Data on patient and CP characteristics, concomitant disorders, vaccination status included in the National Immunization Program (NIP), administration, and influenza vaccine recommendation were collected at a single visit. A total of 1194 patients were enrolled. Regarding immunization records, the most frequently administrated and schedule completed vaccines were BCG (90.8%), hepatitis B (88.9%), and oral poliovirus vaccine (88.5%). MMR was administered to 77.3%, and DTaP-IPV-HiB was administered to 60.5% of patients. For the pneumococcal vaccines, 54.1% of children received PCV in the scope of the NIP, and 15.2% of children were not fully vaccinated for their age. The influenza vaccine was administered only to 3.4% of the patients at any time and was never recommended to 1122 parents (93.9%). In the patients with severe (grades 4 and 5) motor dysfunction, the frequency of incomplete/none vaccination of hepatitis B, BCG, DTaP-IPV-HiB, OPV, and MMR was statistically more common than mild to moderate (grades 1-3) motor dysfunction (p = 0.003, p < 0.001, p < 0.001, p < 0.00, and p < 0.001, respectively). Physicians' influenza vaccine recommendation was higher in the severe motor dysfunction group, and the difference was statistically significant (p = 0.029).Conclusion: Children with CP had lower immunization rates and incomplete immunization programs. Clinicians must ensure children with CP receive the same preventative health measures as healthy children, including vaccines. What is Known: • Health authorities have defined chronic neurological diseases as high-risk conditions for influenza and pneumococcal infections, and they recommend vaccines against these infections. • Children with CP have a high risk of incomplete and delayed immunization, a significant concern given to their increased healthcare needs and vulnerability to infectious diseases. What is New: • Influenza vaccination was recommended for patients hospitalized due to pneumonia at a higher rate, and patients were administered influenza vaccine more commonly. • Children with CP who had higher levels of motor dysfunction (levels 4 and 5) were more likely to be overdue immunizations.

A Neurological Appearance of Celiac Disease: Is There Any Associated Factor?

OBJECTIVE: Celiac disease may present with one or more neurological signs and/or symptoms. We aimed to define the incidence of accompanying neurological manifestations in children diagnosed as having celiac disease. METHODS: The prospective study included 146 children diagnosed as having celiac disease. The medical records (presentation symptoms, clinical findings, serological test, duodenal biopsy results, lack/deficiency of vitamin, tissue type, accompanying autoimmune disorders) and demographic data of all patients were also reviewed. RESULTS: Thirty-five (23.9%) of the 146 celiac patients exhibited one or more neurological findings. Headache (11.6%) and dizziness (6.1%) were the most common symptoms among neurological manifestations. There was a significant difference between the patients with and without neurological manifestations in terms of sex, biopsy result, and tissue type (P < 0.05). Moreover, there was a statistically significant difference between tissue types of the patients with and without headache (P < 0.05). We found that grade 3a by Marsh classification was the most common type among the patients with and without neurological findings in celiac disease. On neuroimaging evaluation of patients, 1 patient with chronic focal ischemic lesion, 1 patient with Chiari type 1 malformation, and 1 patient with subcortical white matter changes were identified. CONCLUSIONS: Pathophysiology of neurological involvement in celiac disease is liable for various neurological findings. This study contributes to data suggesting that female sex, mild histopathological form, and human leukocyte antigen DQ2 heterozygosity are related to neurological manifestations, and also human leukocyte antigen DQ2 heterozygosity is associated with headache in celiac disease.

Treatment Outcomes of Pediatric Status Epilepticus in a Tertiary Pediatric Intensive Care Unit.

OBJECTIVE: Status epilepticus is associated with high rates of morbidity and mortality; thus, early diagnosis and proper treatment are crucial. We aimed to study the etiology, clinical features, and treatment among pediatric patients with convulsive status epilepticus. METHODS: The medical records of 100 patients were retrospectively obtained from pediatric intensive care unit. Etiology, clinical features, and treatment were interpreted by using Fisher exact test, χ2 test, and Spearman ρ correlation coefficient. RESULTS: Seizures had stopped with the first-, second-, and third-line treatment in 29%, 36%, and 35% of the patients, respectively. Only phenytoin treatment was efficient; it has 32.3% rate in second-line treatment. Whereas mortality rate was 10%, morbidity rate was 14% during the follow-up. Epilepsy, hemiparesis, spastic tetraparesis, and mental retardation developed. Mortality was significantly much more in the patients with refractory seizure and cerebral palsy. Development of mental retardation was much higher in the male sex. CONCLUSIONS: Phenytoin is still one of the most efficient antiepileptic drugs. If the duration of status epilepticus can be shortened by prompt treatment, neurological complications may be prevented.

Clinical and Genetic Features of Congenital Myasthenic Syndromes due to CHAT Mutations: Case Report and Literature Review.

Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea. We report a case of a 12-month-old female patient presented with recurrent episodic apnea carrying a mutation in CHAT gene, p.I336T. Furthermore, we describe the genetic and clinical findings in 44 CMS patients due to CHAT mutations in the literature up to date. Episodes of apnea and respiratory insufficiency are the hallmarks of CHAT mutations. Clinical manifestations usually provoked by infections and fever. CMS due to CHAT mutations are rare, but it is important to diagnosis. Early diagnosis and appropriate treatment can improve morbidity and mortality.

Somatosensory reflex seizures in a child with epilepsy related to novel SCN1A mutation.

INTRODUCTION: Mutations in SCN1A have been reported in patients with different types of epilepsy, including generalized epilepsy with febrile seizures plus, severe myoclonic epilepsy in infancy, malignant migrating partial seizures in infancy, and other infantile epileptic encephalopathies. CASE REPORT: We report a case of a 10-month-old girl presented with reflex epileptic seizures provoked by somatosensory stimuli with a novel de novo mutation of SCN1A gene. She was observed to have seizures with eye deviation, unresponsiveness provoked by somatosensory stimuli of the face. Video-electroencephalography (EEG) revealed generalized spike-and-wave patterns. She experienced one or two focal clonic seizures per month over the 6 months while taking valproate and carbamazepine. At 22 months old, she was hospitalized with an episode of generalized tonic clonic febrile status epilepticus lasting for 45 min. Interictal sleep video-EEG showed sharp-and-slow wave discharges in the left occipital lobe with normal background activity. We found a de novo heterozygote mutation in SCN1A gene, c.1337A>C (p. Q422P). CONCLUSION: To our knowledge, this mutation has not been previously described in the SCN1A gene and this is the first report of epilepsy related to SCN1A mutation as a presenting with reflex epilepsy of somatosensory stimuli. This case report contributes to an expanding clinical spectrum of patients with SCN1A mutations.

Exogenous application of mycotoxin fusaric acid improve the morphological, cytogenetic, biochemical and anatomical parameters in salt (NaCl) stressed Allium cepa L.

Salinity is one of the most important abiotic stress factors that negatively affect plant growth and development. In contrast, fusaric acid (FA), a mycotoxin produced by Fusarium and Giberella fungal genera, has biological and metabolic effects in various plants. In this study, it was aimed to investigate the protective effect of externally applied FA (0.1 nM) against the damage caused by salt (0.15 M NaCl) stress in onion (Allium cepa L.) plant. Salt stress resulted in an increase in the chromosomal aberrations (CAs) and micronucleus (MN) frequency, a decrease in the mitotic index (MI), fresh weight, root number, germination percentage, and root length. It promoted CAs such as irregular mitosis, bilobulated nuclei, chromosome loss, bridge, unequal seperation of chromosome, vagrant chromosome and polar slip in root meristem cells. In addition, salt stress caused a enhancement in free proline (PR), catalase (CAT), superoxide dismutase (SOD) and malondialdehyde (MDA) contents in the roots of onion plant. Moreover, it revealed damage and changes that include the accumulation of some chemical substances such as proline and sugars in epidermis and cortex layer cells, epidermal cell injury, flattening of the cell nucleus, wall thickening in cortex cells, necrotic areas and indistinct transmission tissue in the anatomical structure of onion roots. On the other hand, FA application promoted bulb germination and mitotic activity, strengthened the antioxidant defense system, and reduced chromosome and anatomical structure damages. In conclusion; it has been revealed that exogenous FA application may have a positive effect on increasing the resistance of onion plants to salt stress.

Volumetric magnetic resonance imaging differences between complex febrile seizure and recurrent simple febrile seizure.

PURPOSE: We investigated the volumetric differences in cortical and subcortical structures between patients with complex febrile seizure (FS) and recurrent simple FS. We aimed to identify the brain morphological patterns of children with complex FS. METHODS: Twenty-five patients with complex FS and age- and sex-matched 25 patients with recurrent simple FS with structural magnetic resonance imaging (MRI) scans were studied. Cortical volumetric analysis was performed using a voxel-based morphometry method with the CAT12 toolbox within SPM12. FSL-FIRST was used to obtain volume measures of subcortical deep grey matter structures (amygdala, caudate nucleus, thalamus, nucleus accumbens, putamen, globus pallidus, and hippocampus). The volumetric asymmetry index (AI) and laterality index (LI) were calculated for each subcortical structure. RESULTS: Compared with recurrent simple FS, complex FS demonstrated lower volume in the left putamen (p = .003) and right nucleus accumbens (p = .001). Additionally, patients with complex FS presented a higher magnitude of AI of the nucleus accumbens (p < .001) compared with recurrent simple FS. CONCLUSIONS: The findings indicate that volumetric analysis may be a useful marker for the detection of FS-induced changes that reflect microstructural alterations. This study is the first to report on alterations in the putamen and nucleus accumbens in FS.

Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy.

Anti-HMGCR myopathy is decribed as an immune-mediated necrotizing myopathy which is characterised by subacute, progressive proximal muscle weakness and elevated creatine kinase (CK) level. In pediatric population, anti-HMGCR myopathy has been reported solely as small case reports, albeit rare. Although treatment consensus has not yet been established, proper treatment with several immunomodulators to include IVIg can show remarkable improvement. We report an 11-year-old-girl diagnosed with anti-HMGCR myopathy with 6 years of follow-up.

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. RESULTS: The study included 279 patients, 174 females and 105 males, with a female-to-male ratio of 1.65. The average age at onset was 12.8 ± 3.4 years, and mean follow-up, 2.1 years (range: 1-12.1 years). Patients <10 years old were grouped as "prepubertal" and those ≥10 years old as "others". The diagnoses made at the end of follow-up were multiple sclerosis associated optic neuritis (n = 90, 32.3 %), single isolated optic neuritis (n = 86, 31 %), clinically isolated syndrome (n = 41, 14.7 %), myelin oligodendrocyte glycoprotein antibody associated optic neuritis (n = 22, 7.9 %), and relapsing isolated optic neuritis (n = 18, 6.5 %). Predominant diagnoses were myelin oligodendrocyte glycoprotein antibody associated optic neuritis and acute disseminated encephalomyelitis associated optic neuritis in the prepubertal group and multiple sclerosis associated optic neuritis in the older group. Recurrences were observed in 67 (24 %) patients, including 28 with multiple sclerosis associated optic neuritis, 18 with relapsing isolated optic neuritis, 11 with myelin oligodendrocyte glycoprotein antibody associated optic neuritis, 8 with aquaporin-4 antibody related optic neuritis, and 2 with chronic relapsing inflammatory optic neuropathy. Recurrences were more common among female patients. Findings supporting the diagnosis of multiple sclerosis included age of onset ≥ 10 years (OR=1.24, p = 0.027), the presence of cranial MRI lesions (OR=26.92, p<0.001), and oligoclonal bands (OR=9.7, p = 0.001). Treatment in the acute phase consisted of intravenous pulse methylprednisolone (n = 46, 16.5 %), pulse methylprednisolone with an oral taper (n = 212, 76 %), and combinations of pulse methylprednisolone, plasmapheresis, or intravenous immunoglobulin (n = 21, 7.5 %). Outcome at 12 months was satisfactory, with 247 out of 279 patients (88.5 %) demonstrating complete recovery. Thirty-two patients exhibited incomplete recovery and further combination treatments were applied. Specifically, patients with relapsing isolated optic neuritis and aquaporin-4 antibody related optic neuritis displayed a less favorable prognosis. CONCLUSION: Our results suggest optic neuritis is frequently bilateral in prepubertal and unilateral in peri­ or postpubertal patients. Age of onset 10 or older, presence of oligoclonal bands, and brain MRI findings reliably predict the development of multiple sclerosis. The risk of developing multiple sclerosis increases mostly during the second and third years of follow-up. Relapsing isolated optic neuritis remains a separate group where the pathogenesis and outcome remain unclear. Investigation of predisposing and diagnostic biomarkers and long follow-up could help to define this group.

Modulation of NaCl-induced osmotic, cytogenetic, oxidative and anatomic damages by coronatine treatment in onion (Allium cepa L.).

Coronatine (COR), a bacterial phytotoxin produced by Pseudomonas syringae, plays important roles in many plant growth processes. Onion bulbs were divided four groups to investigate the effects of COR against sodium chloride (NaCl) stress exposure in Allium cepa L. root tips. While control group bulbs were soaked in tap water medium, treatment group bulbs were grown in 0.15 M NaCl, 0.01 µM COR and 0.01 µM COR + 0.15 M NaCl medium, respectively. NaCl stress seriously inhibited the germination, root lenght, root number and fresh weight of the bulbs. It significantly decreased the mitotic index (MI), whereas dramatically increased the micronucleus (MN) frequency and chromosomal aberrations (CAs). Moreover, in order to determine the level of lipid peroxidation occurring in the cell membrane, malondialdehyde (MDA) content was measured and it was determined that it was at the highest level in the group germinated in NaCl medium alone. Similarly, it was revealed that the superoxide dismutase (SOD), catalase (CAT) and free proline contents in the group germinated in NaCl medium alone were higher than the other groups. On the other hand, NaCl stress caused significant injuries such as epidermis/cortex cell damage, MN formation in epidermis/cortex cells, flattened cells nuclei, unclear vascular tissue, cortex cell wall thickening, accumulation of certain chemical compounds in cortex cells and necrotic areas in the anatomical structure of bulb roots. However, exogenous COR application significantly alleviated the negative effects of NaCl stress on bulb germination and growth, antioxidant defense system, cytogenetic and anatomical structure. Thus, it has been proven that COR can be used as a protective agent against the harmful effects of NaCl on onion.

Investigation of the potential role of fusicoccin, a fungal phytotoxin, in mitigating salt stress in onion roots.

Fusicoccin is a diterpene glycoside that plays an important role in the regulation of plant growth and development. Fusicoccin produced by Fusicoccum amydali fungus is known to affect plant growth positively with external applications due to its potential to stimulate the tolerance system of plants under stress conditions. In this study, it was aimed to reduce the negative effects of salt (0.15 M NaCl) stress on the germination and growth of onion (Allium cepa L.) bulbs by external fusicoccin (3 µM) application. For this purpose, the germination percentage, root length, root number, fresh weight, mitotic activity, micronucleus frequency, chromosomal abnormality, antioxidant enzyme activity, osmolyte accumulation, cell membrane damage and root anatomical structure were investigated in the current study. Salt stress caused a statistically significant difference (p < 0.05) in all examined parameters. External application of fusicoccin to onion bulbs germinated under salt stress conditions was found to be promising as a plant growth promoter and mitosis stimulator. In addition, fusicoccin application alleviated the harmful effects of salt stress on the chromosome structure and root anatomical structure and protected the cells from the cytotoxic and genotoxic effects of salt. Moreover, this application contributed to the fight against reactive oxygen species of onion plant and increased salt tolerance by regulating the accumulation of osmolyte substances such as proline and antioxidant enzymes such as superoxide dismutase and catalase, and by minimizing cell membrane damage in root cells. In conclusion, this study showed that exogenous application of 3 µM fusicoccin reduced the damage caused by oxidative stress in onion bulbs and served for healthy germination and growth.

Determining the Role of Immunoglobulin Levels in Children with Febrile Seizures.

Background: Febrile seizures are the most common form of convulsive disorder in childhood. The mechanisms underlying the pathogenesis of febrile seizure remain unclear. Objective: The aim of this study was to assess the immunoglobulin (IG) sub-group levels in children with febrile seizures. Methods and Material: The patients with a diagnosis of febrile seizure with an age range of 1-7 years who attended the clinic were included in the study. Neurologically normal and age- and sex-matched children with no history of febrile seizures were considered as controls. Results: A total of 64 patients and 100 control subjects participated in this study. There were no significant inter-group differences in terms of sex and age of the participants (p >.05). There was no statistical difference between case and control groups for serum lymphocyte count, IgA, IgG, IgM, IgE levels, and anti-HB response (p >.05). Conclusion: Our study demonstrated that there is no difference in humoral immunity between children with febrile seizures and control subjects with the same age range.

Potential toxicity assessment of mycotoxin fusaric acid with the spectral shift profile on DNA.

In this study, the multiple toxicities induced by three different doses (1, 5, and 10 µM) of fusaric acid (FA), a mycotoxin, was investigated with Allium test. Physiological (percent germination, root number, root length, and weight gain), cytogenetic (micronucleus = MN, chromosomal abnormalities = CAs, and mitotic index = MI), biochemical (proline level, malondialdehyde = MDA level, catalase = CAT activity, and superoxide dismutase = SOD activity), and anatomical parameters were used as indicators of toxicity. Allium cepa L. bulbs were divided into four groups as one control and three applications. The bulbs in the control group were germinated with tap water for 7 days, and the bulbs in the treatment groups were germinated with three different doses of FA for 7 days. As a result, FA exposure caused a decrease in all physiological parameters examined at all three doses. Besides, all FA doses caused a decrease in MI and an increase in the frequency of MN and the number of CAs. FA promoted CAs such as nucleus with vacuoles, nucleus buds, irregular mitosis, bridge, and misdirection in root meristem cells. DNA and FA interactions, which are the possible causes of genotoxic effects, were examined by spectral analysis, and FA could interact with DNA through intercalation, causing bathochromic and hypochromic shifts in the spectrum. FA also causes toxicity by inducing oxidative stress in cells, confirming this; dose-related increases in root MDA and proline levels were measured as a result of FA exposure. In the root SOD and CAT enzyme activities, increases up to 5 µM doses and decreases at 10 µM doses were measured. FA exposure induced anatomical damage such as necrosis, epidermis cell damage, flattened cell nucleus, thickening of the cortex cell wall, and unclear vascular tissue in root tip meristem cells. As a result, FA caused a comprehensive toxicity by showing an inhibitory effect in A. cepa test material, and the Allium test was a very useful test in determining this toxicity.

Evaluation of Nonconvulsive Status Epilepticus and Nonconvulsive Seizures in a Pediatric Intensive Care Unit.

We aimed to identify nonconvulsive seizures (NCS) and nonconvulsive status epilepticus (NCSE) in a pediatric intensive care unit (PICU). A prospective cohort study on 35 patients who underwent continuous electroencephalographic monitoring in the PICU was done. The patients were evaluated to collect data of their demographics, clinical diagnoses, clinical seizures by electroencephalography, and neuroimaging findings. One case with NCSE and 4 cases with NCS were diagnosed among the 35 patients. The etiology of the patient with NCSE showed antiepileptic drug (AED) withdrawal. The etiology of the patients with NCS included electrical injury, head trauma, subarachnoid hemorrhage, and pneumonia. The findings suggest that younger age, epilepsy, acute structural brain abnormalities, abrupt cessation of AED, and clinically overt seizures before NCSE/NCS are associated with significant risk for NCS/NCSE. In addition, the electrical injury may also be considered as a risk factor for electrographic seizure though such a case has not yet been reported.

Evaluation of MicroRNAs in Pediatric Epilepsy.

OBJECTIVE: The pathophysiology of epilepsy remains unknown. Recent research has shown that microRNA expression changes in epileptic adults. In the present work, we aimed to identify serum microRNA expression in drug-responsive and resistant children with idiopathic general- ized epilepsy. MATERIALS AND METHODS: The study included 43 (20 male and 23 female) epilepsy patients and 66 (43 male and 23 female) control subjects. The mean ages of the groups were 113.41 ± 61.83 and 105.46 ± 62.31 months, respectively. Twenty-eight epileptic patients were classi- fied as drug resistant. Thirteen of the controls were the siblings of patients with epilepsy. The study only included children with idiopathic generalized epilepsy who had normal brain mag- netic resonance imaging. The serum microRNA expressions (microRNA-181a, microRNA-155, microRNA-146, and microRNA-223) were investigated. Expressions of serum microRNA-181a, microRNA-155, microRNA-146, and microRNA-223 were previously investigated in epilepsy patients and children with febrile seizures. Therefore, these microRNAs were chosen. The expressions of serum levels of microRNAs were determined using quantitative real-time poly- merase chain reaction. RESULTS: The results indicated that the expressions of serum microRNA-155 and microRNA-223 were elevated in epileptic children (P < .05). The expression of the same microRNAs was also elevated in individuals with drug-resistant epilepsy compared to healthy controls (P < .05). microRNA-146a, microRNA-155, and microRNA-223 expressions were higher in drug-resistant patients than in drug-responsive children (P < .05). A logistic regression study determined that an increase of microRNA-155 was a risk for epilepsy, while a decrease of microRNA-146a risk for epilepsy. CONCLUSION: Few researchers have investigated the function of microRNAs in the develop- ment of childhood epilepsy. Our findings revealed that epilepsy patients have abnormal microRNAexpression.

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

Aycan Ünalp, Yigithan Güzin, Bülent Ünay, Ayse Tosun, Dilek Çavusoglu, Hande Gazeteci Tekin, Semra Hiz Kurul, Ebru Arhan, Selvinaz Edizer, Gülten Öztürk, Uluç Yis, Ünsal Yilmaz, 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/epd2.20150) The above article, published online on 16 August 2023 on Wiley Online Library (www.onlinelibrary.wiley.com), has been retracted by agreement between the authors, the Editor-in-Chief, Sándor Beniczky, and John Wiley & Sons Ltd. The authors asked for a retraction based on an experimental error which would alter the results of the study if corrected.

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. RESULTS: There were total 69 patients (38 girls, 31 boys). The median age at index MRI was 15.7 years, and median follow-up time was 28 months. The most common reason for neuroimaging was headache (60.9%). A first clinical event occurred with median 11 months in 14/69 (20%) of cases. Those with oligoclonal bands (OCB) in cerebrospinal fluid (CSF) and follow-up longer than 3 years were more likely to experience a clinical event (p<0.05): 25% of those with OCB manifested clinical symptoms within the first year and 33.3% within the first two years compared to 6.3% and 9.4%, respectively in those without OCB. Radiological evolution was not associated with any variables: age, sex, reason for neuroimaging, serum 25-hydroxyvitamin D level, elevated IgG index, OCB positivity, total number and localization of lesions, presence of gadolinium enhancement, achievement of 2005 criteria for DIS and duration of follow-up. CONCLUSION: Children and adolescents with RIS and CSF OCB should be followed-up for at least 3 years in order to detect any clinical symptoms suggestive of a demyelinating event. Because disease-modifying treatments are not approved in RIS and no consensus report justifies their use especially in pediatric RIS, close follow-up of OCB-positive patients is needed for early recognition of any clinical event and timely initiation of specific treatment.