A5014691011- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Diet and metabolism studies
- Child Nutrition and Feeding Issues
- Cellular transport and secretion
- Mitochondrial Function and Pathology
- Cerebral Palsy and Movement Disorders
- EEG and Brain-Computer Interfaces
- Fetal and Pediatric Neurological Disorders
- Autoimmune Neurological Disorders and Treatments
- Genomics and Rare Diseases
- Neurogenetic and Muscular Disorders Research
- Genetic and Kidney Cyst Diseases
- Biochemical and Molecular Research
- Vascular Malformations Diagnosis and Treatment
- Skin and Cellular Biology Research
- Bacterial Infections and Vaccines
- Glycosylation and Glycoproteins Research
- Child Nutrition and Water Access
- Cardiomyopathy and Myosin Studies
- Nerve Injury and Rehabilitation
- Lysosomal Storage Disorders Research
- Glioma Diagnosis and Treatment
- Myasthenia Gravis and Thymoma
Izmir University
2018-2025
Bakırçay Üniversitesi
2020-2024
Ege Üniversitesi Tıp Fakültesi Hastanesi
2014-2022
Sağlık Bilimleri Üniversitesi
2017-2022
Ege University
2015-2021
Izmir Tepecik Eğitim ve Araştırma Hastanesi
2020
Antalya IVF
2020
Sivas State Hospital
2014
Dokuz Eylül University
2008-2013
Limb-girdle muscular dystrophy (LGMD) is the fourth most common dystrophy, with progressive proximal muscle weakness. However, a large number of neuromuscular conditions are similarly presented. Because this, use high-throughput methods such as next-generation sequencing (NGS) important in evaluation LGMD.In this report, we applied custom target capture-based NGS panel covering 31 LGMD-associated genes (MYOT, LMNA, CAV3, DES, DNAJB6, FLNC, CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TCAP, TRIM32,...
Introduction: In this study, we examined the genotype-phenotype characteristics of cases with pathogenic/possibly pathogenic variants in RYR1 gene that follow our clinic. Methods: Data patients who applied to clinic and had were evaluated retrospectively. Patients terms demographic, clinical, individual genetic data, age symptom-onset, sex, clinical features, types, variants, cardiac involvement, muscle biopsy results, serum creatinine kinase (CK) levels, family history, consanguinity....
Abstract Objectives Diagnostic process of mitochondrial disorders (MD) is challenging because the clinical variability and genetic heterogeneity these conditions. Next-Generation Sequencing (NGS) technology offers a high-throughput platform for nuclear MD. Methods We included 59 72 patients that undergone WES targeted exome sequencing panel suspected to have potential PMDs. Patients who were in analysis considering possible PMD reviewed retrospectively scored according Mitochondrial Disease...
Migraine is the primary cause of headache in childhood. Most patients can be treated with lifestyle changes and acute attack treatment. Prophylaxis should considered when necessary, such as frequent absenses from school, poor quality life, recurring emergency room visits analgesic use. We aimed to compare efficacy side effects drugs being used migraine prophylaxis which were chosen according characteristics patients.186 evaluated who aged 6-18 years diagnosed The International Classification...
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 drug-responsive and resistant children with idiopathic general- ized epilepsy.The study included 43 (20 male 23 female) patients 66 (43 control subjects. mean ages groups were 113.41 ± 61.83 105.46 62.31 months, respectively. Twenty-eight classi- fied as drug resistant. Thirteen controls siblings epilepsy. only...
Background: Research on the interaction of parenting style, parents’ mealtime behaviors, and children’s eating behavior in presence chronic disease is limited. This study aimed to investigate impact style parental actions children with epilepsy. Methods: Thirty-one epilepsy, thirty-one healthy (aged 4–9 years), their parents were included. The Multidimensional Assessment Parenting Scale (MAPS), Parent Mealtime Action Scale, Children’s Eating Behavior Questionnaire, Healthy Index (HEI)-2015...
Tekin H, Tekgül Yılmaz S, Arslangiray D, Reyhan Serdaroğlu G, Gökben S. Prevalence and severity of malnutrition in pediatric neurology outpatients with respect to underlying diagnosis co-morbid nutrition feeding related problems. Turk J Pediatr 2018; 60: 709-717. This study aimed determine prevalence problems outpatients. A total 1,057 (7.2±5.4 years, 56.9% males) were included. Data on patient demographics, neurological diagnosis, anthropometrics Nutritional Questionnaire (NQ) for...
Pyridoxine-dependent epilepsy (PDE) is a rare but an important condition, since early diagnosis and treatment result in normal or near psychomotor development. It caused by mutations the Antiquitin (ALDH7A1) gene. Different clinical findings may appear deficiency of pyridoxine, which cofactor many enzymes. A wide variety laboratory can cause confusion during diagnosis. We present male with neonatal convulsions; structural brain anomaly, hyperglycinemia CSF/plasma, ALDH7A1 Compound...
Camphor is a cyclic ketone of the hydro aromatic terpene group.Today it frequently used as prescription or non-prescription topical antitussive, analgesic, anesthetic and antipruritic agent.Camphor which considered an innocent drug by parents physicians common household item can lead to severe poisoning in children even when taken small amounts.Neurotoxicity form seizures ocur soon after ingestion.A two-year old female patient who presented with complaint generalized tonic-clonic oral...
Friedreich's ataxia (FA) is a rare, progressive, and degenerative hereditary disorder caused by deficiency of frataxin protein. This disease characterised severe neurological dysfunction life-threatening cardiomyopathy. Various drugs are used to slow down / stop the neurodegenerative progress. However, recent clinical trials animal experiments demonstrate that interferon-gamma (IFN-ɣ) treatment might improve signs FA as well. A 9-year-old girl was admitted our hospital with gait instability,...
To compare the effects of chloral hydrate and melatonin on sleep EEG recordings in children by using standard stages bispectral index scores (BIS).A total 86 were randomly assigned to two groups: (1) group (n = 43) (2) 43). BIS monitoring EEGs recorded simultaneously. The effect drugs recording was evaluated with BIS.There no statistically significant difference between groups regard time onset need for a second drug ( P 0.432; 1.000). Eight patients (18.6%) reported side while there 0.006)....
Autoimmune encephalitis should be excluded in unexplained encephalitis.A significant portion of autoimmune childhood is anti-NMDA encephalitis.However, neuroimaging and routine diagnostic tests are inadequate, diagnosis sholud confirmed by the demonstration autoantibodies.The treatment may delay this process.Extreme delta brush waves unique electroencephalography pattern, seen some Anti-NMDA encephalitis, useful for early diagnosis.Extreme activity associated with prolonged hospitalization...
Dropped head syndrome can be seen in many neuromuscular diseases. However, there are very few diseases which neck extensors weak among A 7 years old boy who had weakness of the extensor muscles, creatinine kinase elevation and dystrophy findings biopsy followed up with preliminary diagnosis muscular is presented. We detected p.N456K (c.1368C > A) heterozygote mutation by gene sequencing Lamin A/C assocıated (LMNA) gene. This was previously reported as Emery-Dreifuss dystrophy.
Purpose/Aim Ehlers-Danlos syndrome (EDS) is a hereditary connective tissue disease. Epilepsy not common neurological finding in EDS. Here we report pediatric patient with EDS comorbid STXBP1 related epileptic encephalopathy as 'electrical status epilepticus during slow-wave sleep (ESES)' and whose refractory seizures were controlled ketogenic diet.Case A 6-year-old girl who had presented worsening cognitive functions. Her electroencephalography (EEG) revealed electrical (ESES). The panel de...