A5090251098- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Pharmacological Effects and Toxicity Studies
- RNA regulation and disease
- Diet and metabolism studies
- EEG and Brain-Computer Interfaces
- Fetal and Pediatric Neurological Disorders
- Amino Acid Enzymes and Metabolism
- Muscle Physiology and Disorders
- Congenital heart defects research
- RNA modifications and cancer
- Neurological disorders and treatments
- Neonatal and fetal brain pathology
- Genetic and Kidney Cyst Diseases
- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- Autism Spectrum Disorder Research
- Peroxisome Proliferator-Activated Receptors
- Psychosomatic Disorders and Their Treatments
- Cerebral Palsy and Movement Disorders
- Glioma Diagnosis and Treatment
- Family and Disability Support Research
- Epigenetics and DNA Methylation
Hacettepe University
2014-2024
Hacettepe University Hospital
2002-2023
Research Network (United States)
2023
Birmingham Children's Hospital
2012
Alberta Children's Hospital
2012
Uniwersytecki Szpital Dziecięcy
1992-2010
Children's Clinical University Hospital
2010
RELX Group (United Kingdom)
2010
RELX Group (United States)
2010
Boston Children's Hospital
2006
Although there is increasing recognition of the role somatic mutations in genetic disorders, prevalence neurodevelopmental disease and optimal techniques to detect mosaicism have not been systematically evaluated.Using a customized panel known candidate genes associated with brain malformations, we applied targeted high-coverage sequencing (depth, ≥200×) leukocyte-derived DNA samples from 158 persons including double-cortex syndrome (subcortical band heterotopia, 30 persons), polymicrogyria...
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and distinctive mid-hindbrain malformation. JS demonstrates substantial phenotypic variability genetic heterogeneity. This study provides comprehensive view of the current basis, range gene-phenotype associations in JS.
Development of surface folds the human brain is controlled in sections. [Also see Perspective by Rash and Rakic ]
Abstract Human cerebral cortical polymicrogyria is a heterogeneous disorder, with only one known gene ( GPR56 ) associated an apparently distinctive phenotype, termed bilateral frontoparietal (BFPP). To define the range of abnormalities that could be caused by human mutations and to establish diagnostic criteria for BFPP, we analyzed in cohort 29 patients typical BFPP. We identified homozygous all The total 11 found represented variety distinct founder various populations throughout world....
l-2-Hydroxyglutaric aciduria (l-2-HGA) is characterized by progressive deterioration of central nervous system function including epilepsy and macrocephaly in 50% cases, elevated levels l-2-hydroxyglutaric acid urine, blood cerebrospinal fluid (CSF). Nuclear magnetic resonance imaging shows distinct abnormalities. We report the identification a gene for l-2-HGA (MIM 236792) using homozygosity mapping. Nine homozygous mutations three missense mutations, two nonsense splice site deletions were...
To define various cranial MR appearances in Wilson's disease (WD).MR examinations of 30 patients (9-44 years old) with WD were retrospectively reviewed. Six asymptomatic siblings. Three other had isolated hepatic involvement, one no symptoms. The remaining 21 neurological 7 whom the mixed form disease. Nine dysfunction, 3 involvement and 6 form.All symptomatic (n = 23) abnormal examinations, Atrophy was present majority them. most frequently involved sites putamen (18/21) pons abnormality....
Slow-growing, low-grade temporal lobe tumors are one of the most common causes epilepsy in children. Although there numerous consistent features this patient group, consensus about management and surgical approach is lacking. In study authors review clinical, pathological, radiological as well outcome data obtained 29 pediatric patients with tumor-related discuss treatment strategies.In who presented intractable seizures secondary to mass lesions underwent comprehensive workup, tumor was...
The effects of hydrotherapy on an 11-year-old girl with stage III Rett syndrome were investigated.The Halliwick method was used to apply in a swimming pool twice week for 8 weeks. girl's physical abilities assessed 3 times: before and 5 minutes after single session weeks hydrotherapy. tests included analysis stereotypical movements, functional hand use, skills, gait balance, hyperactive behaviour, communication social interaction.Immediately hydrotherapy, movements decreased this decrease...
<h3>Objective:</h3> Peroxisomal blood tests are generally considered to be conclusive. We observed several patients with a clinical and MRI phenotype suggestive of an infantile onset peroxisomal defect, but no convincing abnormalities in initial tests. Brain showed typical as the neonatal adrenoleukodystrophy variant disorders. Our aim was evaluate accuracy this diagnosis further testing. <h3>Methods:</h3> searched our database unclassified leukoencephalopathies found 6 such patients....