A5074458249- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Vestibular and auditory disorders
- Infant Development and Preterm Care
- Peripheral Neuropathies and Disorders
- Trace Elements in Health
- Genomics and Rare Diseases
- Pharmacological Effects and Toxicity Studies
- Cerebral Palsy and Movement Disorders
- Neurogenetic and Muscular Disorders Research
- Neonatal and fetal brain pathology
- Family and Disability Support Research
- Long-Term Effects of COVID-19
- Mitochondrial Function and Pathology
- Infectious Encephalopathies and Encephalitis
- Obstructive Sleep Apnea Research
- Celiac Disease Research and Management
- Genetic Neurodegenerative Diseases
- Autism Spectrum Disorder Research
- Musculoskeletal pain and rehabilitation
- Hereditary Neurological Disorders
- Genomic variations and chromosomal abnormalities
- Alcoholism and Thiamine Deficiency
- Inflammatory Myopathies and Dermatomyositis
- Bartonella species infections research
Inonu University
2009-2025
Pediatrics and Genetics
2024
State Hospital
2024
Mersin Üniversitesi
2024
City Hospital
2024
Background SMA Type 1 is the most severe form of spinal muscular atrophy with early symptom onset, limited motor development, and poor prognosis. Recent genetic-based therapies, such as nusinersen, have transformed disease outcomes. We aimed to evaluate long-term effects nusinersen on motor, bulbar, respiratory functions in both symptomatic presymptomatic patients over a period up 4 years. Methods This prospective, non-interventional study included 310 genetically confirmed at 24 pediatric...
Abstract Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk autosomal recessive genetic conditions, leading to severe disability or premature death, with significant health and economic burden. A definitive molecular diagnosis could not be achieved these children previously, as infrastructures access sophisticated diagnostic options were limited. We studied the cause neurogenetic disease 246 from 190 consanguineous families recruited three Turkish...
Parents of a child with neurological problems such as seizures and epilepsy experience significant mental distress. Little is known about the state parents in stressful situation. This study aims to determine prevalence self-reported depression, anxiety, sleep disorders, quality life children first unprovoked seizure.
Background Acute ataxia is a common reason for presentation to the pediatric emergency department and neurology clinic in childhood. Its incidence between 1/100,000 1/500,000. most infections. Objective The aim of this study was examine clinical presentation, etiological factors, prognosis patients presenting our regional tertiary with diagnosis acute ataxia. Methods An evaluation made younger than 18 years diagnosed 2009 2016. Results Thirty-nine children were included analysis. Sex, age,...
Background Pediatric acute liver failure (PALF) is still life-threatening and requires urgent care. The presence of encephalopathy a clinical diagnosis, but it more difficult to diagnose in children than adults, an electroencephalogram (EEG) can be invaluable. role EEG managing the treatment patients with PALF, other identification encephalopathy, unknown. This study aimed investigate patients' EEGs, which may guide choosing most appropriate children. A further aim was new score method,...
Kılıç B, Güngör S, Özgör B. Clinical, electrophysiological findings and evaluation of prognosis patients with Guillain-Barré syndrome. Turk J Pediatr 2019; 61: 200-208. syndrome (GBS) is an acute inflammatory polyneuropathy characterized by frequent rapid progressive, ascending, symmetric weakness areflexia. We aimed to evaluate the etiology, clinical treatment GBS in our clinic. Patients who were diagnosed clinic between 2009 2017 evaluated retrospectively. The study included 20 female 25...
Microtubules help building the cytoskeleton of neurons and other cells. Several components gamma-tubulin (γ-tubulin) complex have been previously reported in human neurodevelopmental diseases. We describe two siblings from a consanguineous Turkish family with dysmorphic features, developmental delay, brain malformation, epilepsy carrying homozygous mutation (p.Glu311Lys) TUBGCP2 encoding γ-tubulin 2 (GCP2) protein. This variant is predicted to disrupt electrostatic interaction GCP2 GCP3. In...
Celiac disease (CD) may present with atypical symptoms, including poor pregnancy outcomes, such as preterm and low birthweight (LBW) deliveries, thus we aimed to investigate the frequency of CD in mothers fathers or LBW newborns.In this study, 316 parents 164 newborns 246 123 healthy were included. was screened using tissue transglutaminase immunoglobulin A. Endoscopic duodenal biopsy provided seropositive cases.Positive A found six (1.1%; 1/94) individuals (three three fathers); five from...
Purpose To obtain information on characteristics, management, current objective nutritional status and perception of children with cerebral palsy (CP) from healthcare professionals (HCPs) caregivers.Materials methods A detailed survey several items eight main topics (general motor function, comorbidities, therapies, anthropometry, feeding mode problems perceived status) was developed tested for the study. Correlation between Gross Motor Function Classification System (GMFCS) levels assessed...
Epilepsy is a group of neurologic disorders with clinical and genetic heterogeneity. often affects children; thus, early diagnosis precise treatment are vital to protecting the standard life child. Progress in epilepsy-related gene discovery has caused enormous novelty specific epilepsy diagnoses. Genetic testing using next-generation sequencing now reachable, leading higher ratios understanding disease's underlying mechanisms. The study's primary aim was identify etiology based on targeted...
This study aimed to investigate the risk factors associated with severity of disease, need for mechanical ventilation (MV) and poor prognosis in early stages Guillain-Barré Syndrome (GBS). Data children who met GBS diagnostic criteria were evaluated retrospectively. The sample was divided into three binary subgroups according severe (Hughes Functional Grading Scale [HFGS] ≥ 4 at admission), requirement, (inability walk independently, HFGS 3 after six months). Various clinical, laboratory...
Dravet syndrome (DS) is characterized by severe infant-onset myoclonic epilepsy with delayed psychomotor development and increased premature mortality. The seizures triggered fire have been gradually decreased over time, finally they start to occur without fever at the age of 2-3 years. Along its initiation in early period, other types such as atypical absence, versive, complex partial between 1 4 years age.A 3-year-old male patient refractory neuromotor developmental retardation was...
Abstract Background Metachromatic leukodystrophy (MLD) is an autosomal recessively (AR) inherited disease caused by the deficiency of enzyme arylsulfatase A (ARSA). Although MLD most common form hereditary leukoencephalopathy, it still very rare. More than 200 gene mutations have been identified in ARSA gene. The frequently mutation one located on chromosome 22q13.33. In present study, new are reported two siblings different ages and with clinical presentations. Case presentation 9-year-old...
Objective: Vertigo in children is a less studied subject than that the adulthood. The aim of present study was to determine clinical characteristics presenting pediatric neurology clinic with vertigo. Methods: Fourty were enrolled. patients digital medical datas analyzed retrospectively. included all younger 18 years age who presented Kahramanmaras Sutcu Imam University Hospital and Aydın Maternity Children’s Hospital, Pediatric Neurology Outpatient Clinic between July 2017 2020. Results: In...