Search Results - "Uzan, Gamze Sarıkaya"
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Pediatric Pseudotumor Cerebri Syndrome Secondary to Superior Sagittal Sinus Thrombosis Associated with Severe Acute Respiratory Syndrome Coronavirus 2 Infection and Brief Literature Review
Published in Journal of Behçet Uz Children's Hospital (04-12-2023)“…Pseudotumor cerebri syndrome (PTCS) is characterized by the presence of elevated intracranial pressure in the environment of intact brain parenchyma and…”
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Evaluation of the Pediatric Neurology Consultations Requested from the Pediatric Emergency Service: A Single-Center Experience
Published in Journal of Behçet Uz Children's Hospital (11-04-2022)“…Objective: Pediatric neurology opinion is one of the most frequently requested consultations in emergency service practice. Symptoms and/or signs such as…”
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Evaluation of the Frequency of Obesity and Demographic Characteristics of Children with Primary Monosymptomatic Nocturnal Enuresis
Published in Haseki tıp bülteni (01-12-2017)“…Aim: Enuresis is a common problem in childhood. Our aim in our study was to evaluate the relationship between monosypmtomatic nocturnal enuresis and obesity…”
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Sural Sparing Pattern and Sensory Ratio as Electrodiagnostic and Prognostic Markers in Pediatric Guillain-Barré Syndrome
Published in Neuropediatrics (01-02-2023)“…We aimed to evaluate the presence of sural sparing pattern (SSP) and sensory ratio in pediatric Guillain-Barré syndrome (GBS), their distribution to subtypes,…”
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5
Genetic, serological and clinical evaluation of childhood myasthenia syndromes- single center subgroup analysis experience in Turkey
Published in Acta neurologica Belgica (01-12-2023)“…Background Congenital myasthenic syndrome is a disease that occurs due to several types such as mutations in different pre-synaptic, synaptic, post-synaptic…”
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6
Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels
Published in Molecular syndromology (01-02-2024)“…Introduction: Limb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous muscle disorders. We aimed to share the diagnostic yield of…”
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Immunization status of patients with spinal muscular atrophy receiving nusinersen therapy
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01-07-2023)“…Children with chronic neurological diseases, including spinal muscular atrophy (SMA), are particularly susceptible to vaccine-preventable infections. We aimed…”
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Single-center experience of therapeutic plasma exchange in children with neuroimmunological disorders: Indications, efficacy, and safety
Published in The Anatolian Journal of General Medical Research (22-04-2024)“…Objective: Therapeutic plasma exchange (TPE) is frequently employed to treat neurological conditions with known or presumed immune pathogenesis in adults,…”
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A novel DOCK7 variant as a rare reason for epileptic encephalopathy, cortical blindness, dysmorphic features: A case report and brief review of the literature
Published in Neurology Asia (01-06-2023)“…Early infantile epileptic encephalopathy 23 (EIEE23; OMIM #615859) is a rare autosomal recessive disorder. It is characterized by refractory seizures,…”
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10
DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature
Published in Molecular syndromology (01-08-2023)“…Introduction: Congenital glycosylation disorders are multisystem diseases with heterogeneous clinical manifestations caused by defects in the synthesis of the…”
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Phenotypic comparison of a novel variant (p.P164R) and A founder mutation (c.748+1G>A) in Warburg Micro syndrome
Published in Neurology Asia (01-12-2023)“…Warburg Micro syndrome is a rare autosomal recessive disease due to pathogenic variants found most commonly in the RAB3GAP1 gene. It is commonly seen in…”
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12
Evaluation of the Genetically Diagnosed Mitochondrial Disease Cases with Neuromuscular Involvement
Published in Journal of Behçet Uz Children's Hospital (11-04-2022)“…Objective: Due to the fact that mitochondrial diseases can involve different organ systems, neuromuscular involvement is frequently observed and has a…”
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13
Otizm spektrum bozukluğunda elektroensefalografinin rolü: Çocuk nörolojisi bakışı
Published in Dokuz Eylül Üniversitesi Tıp Fakültesi dergisi (30-08-2022)“…Amaç: Otizm spektrum bozukluğu’nda (OSB) epileptik dalga formasyonu ve anormal paroksizmal aktivite sık görülen elektroensefalografi (EEG) anormallikleridir…”
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14
The fate of spikes in self-limited epilepsy with centrotemporal spikes: Are clinical and baseline EEG features effective?
Published in Epilepsy research (01-07-2023)“…The aim of this study is to evaluate the effects of clinical and electroencephalographic features on spike reduction with a focus on the first EEG…”
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Primer monosemptomatik enürezis nokturna tanılı çocuklarda obezite sıklığının ve demografik özelliklerin değerlendirilmesi
Published in Haseki tıp bülteni (01-12-2017)“…Amaç: Enürezis, çocukluk çağının yaygın görülen bir problemidir. Çalışmamızda amacımız monosemptomatik enürezis noktürna (EN) ile obezite arasındaki ilişkiyi…”
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Electroclinical and Demographic Evaluation of Cases with Selflimited Epilepsy with Centrotemporal Spikes
Published in Forbes Tıp Dergisi (31-03-2023)“…Objective: This study aims to contribute to our understanding of unknown aspects of this syndrome by evaluating the characteristics of patients with rolandic…”
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Double trouble: A case of DYT-TOR1A diagnosed in the postoperative period
Published in Annals of the Indian Academy of Neurology (01-07-2023)Get full text
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Pediatric-Onset Chronic Inflammatory Demyelinating Polyneuropathy: A Multicenter Study
Published in Pediatric neurology (01-08-2023)“…To evaluate the clinical features, demographic features, and treatment modalities of pediatric-onset chronic inflammatory demyelinating polyneuropathy (CIDP)…”
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Evaluation of risk factors for recurrence of cutaneous adverse reactions due to anti-seizure medications in children: A retrospective study
Published in Current journal of neurology (07-10-2023)“…Cutaneous adverse reactions (CARs) are one of the most important reasons for anti-seizure medication (ASM) discontinuation in epilepsy. However, such…”
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Optic neuritis in CD59 deficiency: an extremely rare presentation
Published in Turkish journal of pediatrics (01-07-2022)“…Background. CD59 is the principal cell inhibitor of complement membrane attack on cells. Stroke, peripheral neuropathy, and recurrent central nervous system…”
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