Mutluay Arslan

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Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of severe epilepsies accompanied by intellectual disability and other neurodevelopmental features. Using next-generation sequencing, we identified four different de novo mutations in KCNA2, encoding the potassium channel KV1.2, in six isolated patients with epileptic(More)
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by a distinctive mid-hindbrain malformation. JS is part of a group of disorders called ciliopathies based on their overlapping phenotypes and common underlying pathophysiology linked to primary cilium dysfunction. Biallelic mutations in one of 28 genes, all encoding proteins(More)
Valproic acid (VPA) is a widely used and well-tolerable antiepileptic drug in epileptic patients. However, VPA has many side effects dose-dependent or non-dose-dependent. It is reported that VPA treatment may lead to biotin deficiency and low serum and liver tissue biotinidase enzyme activity (BEA). Major clinical manifestations in biotin deficiency are(More)
AIMS The aim of our study is to investigate alterations in visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP) in children with obesity. METHODS A total of 96 children, with a mean age of 12.1±2.0 years (range 9-17 years, 63 obese and 33 age and sex-matched control subjects) were included in the study. Laboratory tests were(More)
We report a five-year-old girl presenting with dysphagia, dysarthria, drooling, and generalized tonic convulsions in whom the final diagnosis was acquired epileptiform opercular syndrome. Levetiracetam monotherapy at a dosage of 40 mg/kg/day improved the clinical findings, and seizures were controlled at the end of the first month of treatment. Six months(More)
Patients with Albright hereditary osteodystrophy (AHO) phenotype are usually seen in pediatric endocrinology policlinics when they are evaluated for short stature and/or obesity. Brachydactyly mental retardation syndrome (BDMR, OMIM #600430) is a rare genetic disorder caused by aberrations of chromosomal region 2q37 and characterized with AHO-like phenotype(More)
Background Obesity is an established risk factor for the occurrence and severity of atopic diseases, particularly asthma in adults and children. Because asthma and allergic rhinitis share common allergic inflammatory pathways, the aim of the study is to investigate the association between fat distributions that is determined by anthropometric measures(More)
BACKGROUND Childhood obesity leads to many complications including impaired respiratory function. There are various anthropometric parameters related to obesity. OBJECTIVE To investigate the correlation between anthropometric indices and pulmonary function test results in children without asthma. METHODS Children without any respiratory disorders were(More)
Method Children with asthma who were followed in our outpatient department of pediatric allergy unit were consecutively recruited. Asthma severity was graded according to NAEPP guidelines. Patients were categorized into two groups; children with intermittent and mild persistent asthma formed Group 1 (mild asthma) whereas children with moderate and severe(More)
BACKGROUND Obesity is a well-established risk factor for asthma. Previous studies have reported that central obesity is associated with asthma. OBJECTIVE To investigate the association between fat distribution, which is determined by anthropometric measures, including neck circumference (NC), and asthma in school-aged children. METHODS Children(More)