Taner Sezer

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Muscle-eye-brain (MEB) disease is an autosomal recessive disorder characterized by a broad clinical spectrum including congenital muscular dystrophy, ocular abnormalities, and brain malformation (type-II lissencephaly). Herein, we report on two Turkish siblings with a homozygous mutation in the POMGnT1 gene. A 6-year-old sibling has a severe form of MEB(More)
This paper addresses theoretical and practical issues experienced in the construction of Turkish National Corpus (TNC). TNC is designed to be a balanced, large scale (50 million words) and general-purpose corpus for contemporary Turkish. It has benefited from previous practices and efforts for the construction of corpora. In this sense, TNC generally(More)
PURPOSE Recent studies have found that S100B is a useful marker for astroglial activation seen in various neurologic disorders. The purpose of this study was to evaluate whether simple febrile seizures (SFS) was associated with an elevation in serum S100B levels. METHODS In this study the samples consisted of 39 patients with SFS ranging from 6 to 36(More)
OBJECTIVE the goal of this prospective and double-blind study was to compare the efficacy of amitriptyline and topiramate for the prevention of pediatric chronic daily headache (CDH). RESEARCH DESIGN AND METHODS fifty-seven children (aged 9-16 yr) diagnosed with CDH were randomly assigned to two groups: group A (n = 29 patients) received amitriptyline 0.5(More)
To determine the prevalence of celiac disease in children and adolescents with nonsyndromic intellectual disability, we investigated serum levels of tissue transglutaminase antibody and total IgA from 232 children with nonsyndromic intellectual disability and in a healthy control group of 239 children. Study participants who were positive for tissue(More)
To determine the prevalence of celiac disease in children and adolescents with migraine, the authors investigated serum levels of tissue transglutaminase antibody immunoglobulin A and total immunoglobulin A from 81 children with migraine and in a healthy control group of 176 children. Study participants who were positive for tissue transglutaminase(More)
Dear Editor, Isovaleric acidemia (IVA) is a rare branched-chain organic acidemia caused by deficiency of isovaleryl-CoA dehydrogenase (IVD). Acute and chronic intermittent forms of IVA have been described. The acute form typically present during the neonatal period with acute en-cephalopathy, vomiting, dehydration, and severe metabolic acidosis. The chronic(More)
Background/Aims The aim of this study was to compare the efficacy and tolerability of topiramate and propranolol in preventing pediatric cyclic vomiting syndrome. Methods A retrospective medical-record review of patients who underwent prophylaxis after receiving a diagnosis of cyclic vomiting syndrome was performed. Patients who completed at least 12(More)
OBJECTIVE Hyperventilation induces absence seizures in children with absence epilepsy, and routine electroencephalography studies include three minutes of hyperventilation. We studied the duration of hyperventilation required to provoke a first absence seizure to determine whether three minutes of the procedure are indeed necessary. METHODS(More)
Deoxyguanosine kinase (DGUOK) gene mutations have been identified in the hepatocerebral form of mitochondrial DNA depletion syndromes. We report here clinical and laboratory features of 3 infants with novel DGUOK gene mutations, c.130G>A (Glu44Lys), c.493G>A (Glu165Lys), and c.707+3_6delTAAG.