Sedat Işıkay
A5056587438- Celiac Disease Research and Management
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Amino Acid Enzymes and Metabolism
- Infectious Encephalopathies and Encephalitis
- Genomics and Rare Diseases
- Brucella: diagnosis, epidemiology, treatment
- Gastrointestinal motility and disorders
- Diet and metabolism studies
- Mosquito-borne diseases and control
- RNA and protein synthesis mechanisms
- Head and Neck Surgical Oncology
- Herpesvirus Infections and Treatments
- Cerebrospinal fluid and hydrocephalus
- Muscle Physiology and Disorders
- Streptococcal Infections and Treatments
- Intestinal Malrotation and Obstruction Disorders
- Ophthalmology and Eye Disorders
- Bacterial Infections and Vaccines
- Epilepsy research and treatment
- Fetal and Pediatric Neurological Disorders
- Teratomas and Epidermoid Cysts
- Biochemical and Molecular Research
Gaziantep University
2011-2024
Gaziantep İslam Bilim ve Teknoloji Üniversitesi
2024
Hasan Kalyoncu University
2016-2021
Medical Park Gaziantep Hospital
2017-2020
Kahramanmaraş Sütçü İmam University
2015-2018
Samsun University
2018
Pediatrics and Genetics
2017
Gaziantep Children's Hospital
2012-2016
Haseki Eğitim ve Araştırma Hastanesi
2016
Ankara Yıldırım Beyazıt University
2015
Multilocus variation-pathogenic variants in two or more disease genes-can potentially explain the underlying genetic basis for apparent phenotypic expansion cases which observed clinical features extend beyond those reported association with a "known" gene.Analyses focused on 106 patients, 19 whom was previously attributed to variation at known genes. We performed retrospective computational reanalysis of whole-exome sequencing data using stringent Variant Call File filtering criteria...
Arthrogryposis, defined as congenital joint contractures in 2 or more body areas, is a clinical sign rather than specific disease diagnosis. To date, 400 different disorders have been described that present with arthrogryposis, and variants of 220 genes associated these disorders; however, the underlying molecular etiology remains unknown considerable majority cases.We performed whole exome sequencing (WES) 52 patients presentation arthrogryposis from 48 families.Affected individuals 17...
Background: Febrile seizure is the most common childhood neurological disorder, an important health problem with potential short- and long-term complications, also leading to economic burden increased parental anxiety about fevers seizures occurring in their children. There are no routine recommendation detect etiological causes of FS for perspective, further knowledge children will support preventive measures follow-up strategies. The aim this study evaluate percentage respiratory viruses...
Abstract Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations ARSs have emerged as cause recessive, often complex neurological disease traits. Here we report an allelic series consisting seven novel and two previously reported biallelic variants valyl-tRNA synthetase ( VARS ) ten patients developmental encephalopathy microcephaly, associated early-onset epilepsy. In silico, vitro, yeast...
Several neurological disorders have also been widely described in celiac disease patients.The aim of this study was to determine the incidence accompanying different neurologic manifestations children with at time diagnosis and discuss these light recent literature.This prospective cross sectional included 297 diagnosed disease. The medical records all patients were reviewed.In evaluation, totally 40 (13. 5%) had a finding including headache, epilepsy, migraine, mental retardation, breath...
Abstract Objective Defects in ion channels and neurotransmitter receptors are implicated developmental epileptic encephalopathy (DEE). Metabotropic glutamate receptor 7 (mGluR7), encoded by GRM7, is a presynaptic G‐protein‐coupled critical for synaptic transmission. We previously proposed GRM7 as candidate disease gene two families with neurodevelopmental disorders (NDDs). One additional family has been published since. Here, we describe three biallelic variants deeply characterize the...
Genetic heterogeneity, reduced penetrance, and variable expressivity, the latter including asymmetric body axis plane presentations, have all been described in families with congenital limb malformations (CLMs). Interfamilial intrafamilial heterogeneity highlight complexity of underlying genetic pathogenesis these developmental anomalies. Family-based genomics by exome sequencing (ES) rare variant analyses combined whole-genome array-based comparative genomic hybridization were implemented...
Some rhythm and conduction abnormalities can occur in children with acute rheumatic fever. These have been defined based on standard electrocardiography; however, the real prevalence of these has not investigated previously by evaluation long-term electrocardiographic recordings. In this study, we evaluated asymptomatic fever evaluating 24-hour electrocardiography. We electrocardiography 64 On electrocardiography, frequency first-degree atrioventricular block was found to be 21.9%....
Işıkay S, N, Per H, Çarman KB, Kocamaz H. Restless leg syndrome in children with celiac disease. Turk J Pediatr 2018; 60: 70-75. Celiac disease (CD) is an immune-mediated enteropathy triggered by ingestion of dietary gluten genetically predisposed individuals. The aim the study was to determine prevalence restless (RLS) CD and investigate associated factors for RLS. Totally 494 ages ranging between 11-18 years were included. Among those, 226 under follow-up constituted group while other 268...