- Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene
Department of Pediatric Neurology, Ankara University School of Medicine of Pediatrics, 06510 Ankara, Turkey
Eur J Paediatr Neurol 12:133-6. 2008
..However, the same mutation resulted in a less severe form of MEB in the older sibling, who is 14 years old. These two cases suggest that POMGnT1 mutations may cause MEB disease with different phenotypes even in the same family...
- Hypophosphatasia associated with pseudotumor cerebri and respiratory insufficiency
Pediatric Neurology, Faculty of Medicine, University of Ankara, Ankara, Turkey
Indian J Pediatr 75:186-8. 2008
..Hypophosphatasia is a very rare cause of pseudotumor cerebri. This report is the first case where PTC is associated with hypophosphatasia and responded well to corticosteroid therapy...
- Lipoprotein (a) levels in childhood arterial ischemic stroke
Divisions of Pediatric Neurology, University of Ankara Faculty of Medicine, Ankara, Turkey
Clin Appl Thromb Hemost 16:214-7. 2010
..Measurement of lipoprotein (a) should be included in screening programs performed in young patients suffering not only from venous thromboembolism but also arterial ischemic stroke, in addition to other thrombophilic factors...
- The relation between cytokines, soluble endothelial protein C receptor, and factor VIII levels in Turkish pediatric stroke patients
Pediatric Clinics of Ankara University, Medical School, Ankara, Turkey
Clin Appl Thromb Hemost 15:545-51. 2009
..This study provides a basis for ongoing studies that aim to clarify stroke etiopathogenesis. Studies with larger series of patients are warranted to confirm this hypothesis...
- Thrombophilic risk factors in epileptic children treated with valproic Acid
Department of Pediatric Neurology, Medicine Faculty, Ankara University, Ankara, Turkey
Pediatr Neurol 40:102-6. 2009
..Nonetheless, caution is advised when initiating valproic acid treatment in children who have had prior stroke or thrombotic events...
- Lipoprotein a levels in pediatric migraine
Department of Pediatric Neurology, School of Medicine, Ankara University, Turkey
Pediatr Neurol 45:225-8. 2011
..The current study suggests evidence of high Lp(a) concentrations in childhood migraine; perhaps a novel link exists between migraine and stroke...
- Juvenile form of myasthenia gravis presenting as recurrent pulmonary infection with atelectasis
Department of Pediatric Neurology, University of Ankara Faculty of Medicine, Ankara, Turkey
Pediatr Int 49:1007-8. 2007
..Generalized weakness and dysphagia are less common presenting symptoms, while the clinical course is highly variable...
- Childhood optic neuritis: the pediatric neurologist's perspective
Hacettepe University Faculty of Medicine, Department of Neurology, Ankara, Turkey
Eur J Paediatr Neurol 13:452-7. 2009
..Optic neuritis in children may be an isolated, usually postinfectious event, or the symptom of a more widespread disorder...