Tuğçe Aksu Uzunhan

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Cri-du-chat syndrome is caused by a partial deletion, either terminal or interstitial, of the short arm of chromosome 5.[1] It occurs in 1 of every 50,000 live births and leads to global developmental delay. The main clinical features are a high-pitched cat-like cry (hence the name of the syndrome), distinct facial dysmorphism, microcephaly and severe(More)
Dear Sir, Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders of the neuromuscular junction that generally begin in infancy or childhood. The prevalence of CMS is estimated at 1 in 500,000 in Europe [1]. They have a wide clinical spectrum, ranging from mild muscular weakness to life-threatening severe clinical course. Common(More)
Lacosamide (LCM) is an effective antiepileptic drug (AED) approved for the treatment of focal epilepsy in both children and adults. The aim of this observational study was to review our centre’s experience with LCM and to characterise its efficacy and tolerability as an adjunct therapy in children with refractory focal epilepsy. We retrospectively reviewed(More)
Population-based studies report that children with epilepsy have relatively better prognosis than those with an onset at infancy, though studies about this period are limited. We aimed to evaluate the etiology in infant epilepsy less than 2 years of age and foreseeable risk factors for anti-epileptic drug resistance. We evaluated the patients who were(More)
BACKGROUND The aim of this paper was to evaluate demographic and prognostic features of febrile seizures (FSs) in a tertiary center in Turkey. METHODS A retrospective study of 632 children with FS was conducted from January 1995 to January 2002 in the pediatric neurology and general pediatrics departments of Istanbul University, Istanbul Medical School.(More)
OBJECTIVES To determine the incidence and clinical relevance of neuronal autoantibodies in children with demyelinating syndromes. METHODS We conducted a prospective study including 31 consecutive children with demyelinating syndromes. Four patients with N-Methyl-D-aspartate receptor (NMDAR) encephalitis, 32 patients with Guillain-Barre syndrome, 13(More)
BACKGROUND Psychosocial and behavioral problems have been reported in children with benign epilepsy with centrotemporal spikes (BECTS). Distinctive features of typical BECTS associated with cognitive and behavioral problems have not clearly been defined. PURPOSE We aimed to identify psychosocial and behavioral functioning and their relationship to seizure(More)
AIM Oral motor dysfunction is a common issue in children with cerebral palsy (CP). Drooling, difficulties with sucking, swallowing, and chewing are some of the problems often seen. In this study, we aimed to research the effect of oral motor therapy on pediatric CP patients with feeding problems. MATERIALS AND METHODS Included in this single centered,(More)
OBJECTIVES This study aims to retrospectively evaluate pediatric Guillain-Barré syndrome cases in a tertiary center in Istanbul, Turkey. MATERIALS AND METHODS The data of 40 patients with Guillain-Barré syndrome who had been admitted to the Department of Pediatrics at the Istanbul University Medical Faculty between 2005 and 2011 were collected.(More)