Sefer Kumandaş

Comparison of the Efficiency of Levetiracetam and Gabapentin on Neuropathic Pain Induced by Peripheral Nerve Damage: An Experimental Study

Halis Ali Çolpak, Mehmet Canpolat, Dilek Günay Canpolat, Gözde Özge Önder et autres

ObjectivesThe purpose of this experimental study was to evaluate the usage of Gabapentin and Levetiracetam for the treatment of induced neuropathic pain in a peripheral nerve injury model. Material and MethodsIn this study, a total of 31 Wistar albino rats were divided …

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Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders

Mehmet Burak Mutlu, Özge Beyza Gündoğdu Öğütlü, Özlem Öz, Fahrettin Duymuş et autres

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social communication and interaction, along with restricted, repetitive patterns of behavior, interests, or activities. Single‐nucleotide variants (SNVs) and structural variants (SVs), including copy‐number variants (CNVs), have been reported as …

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Genotypic and Phenotypic Characterization of Axonal Charcot–Marie–Tooth Disease in Childhood: Identification of One Novel and Four Known Mutations

Rojan İpek, Büşra Eser Çavdartepe, Sevcan Tuğ Bozdoğan, Erman Altunışık et autres

Background: Charcot–Marie–Tooth disease (CMT) is a genetically and phenotypically heterogeneous hereditary neuropathy. Axonal CMT type 2 (CMT2) subtypes often exhibit overlapping clinical features, which makes molecular genetic analysis essential for accurate diagnosis and subtype differentiation. Methods: This retrospective study included five pediatric …

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A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis

Aslıhan Kiraz, Murat Erdoğan, Burhan Balta, Hakan Gümüş et autres

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Acute Disseminated Encephalomyelitis in Children and Adolescents: A Multicenter Retrospective Study of Relapse and Outcome

Seda Kanmaz, Sanem Keskin Yılmaz, Nihal Olgaç Dündar, Ayşe Aksoy et autres

Objectives To evaluate the demographic, clinical, laboratory, and prognostic data of children with acute disseminated encephalomyelitis with respect to anti-myelin oligodendrocyte glycoprotein (MOG) antibody status. Methods Acute disseminated encephalomyelitis patients (n = 245) from 24 centers followed up between 2010 and 2022 …

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Canpolat, Temel Pediatrik Epilepsi

Yiğithan Güzin, Aycan Ünalp, Semra Büyükkorkmaz Öztürk, Müge Ayanoğlu et autres

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Erken İnfantil Epileptik Spazm Sendromu (IESS) (West Sendromu ve Diğer Epileptik Spazmlar

Gül Demet Kaya Özçora, Sefer Kumandaş

Evaluation of Patients with Cockayne Syndrome

Hamit Acer, Gül Demet Kaya Özçora, Mehmet Canpolat, Muhammet Ensar Doğan et autres

Cockayne syndrome (CS) is a rare, severe, genetic neurodegenerative disorder. To better understand the condition, this article aimed to discuss the clinical manifestations and prognosis of CS. This clinical study was a retrospective review of the medical records of patients diagnosed with …

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Childhood pseudotumor cerebri syndrome: demographics, clinical features and optical coherence tomography utilization as a new method for diagnosis, treatment efficiency and follow up

Burcu Daldaban Çiftçi, Hakan Gümüş, Duygu Gülmez Sevim, Mehmet Canpolat et autres

Abstract Aim The aim of this study is to evaluate the demographic data, treatment efficacy, optical coherence tomography (OCT) results used for the diagnosis and follow-up of patients with pseudotumor cerebri syndrome (PCS) followed up in our pediatric neurology clinic between 2014 …

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Nörofibromatozis

Selcan Öztürk, Mehmet Canpolat, Sefer Kumandaş

Nörofibromatozis; santral ve periferik sinir sistemi başta olmak üzere cilt, kemik ve kas-iskelet sistemini etkileyen, sıklıkla otozomal dominant kalıtılan multisistemik bir nörokütanöz hastalıktır. Hastalık, NF1, NF2, Schwannomatoz ve Legius sendromu gibi farklı klinik formlarla kendini gösterir ve tanı süreci detaylı klinik değerlendirme …

Diğer Nadir Görülen Nörokütanöz Hastalıklar

Sevgi Çıraklı, Mehmet Canpolat, Sefer Kumandaş

Nörokutanöz hastalıklar, deri ve sinir sistemi başta olmak üzere çoklu organ tutulumu ile seyreden, genellikle genetik kökenli nadir klinik tabloları kapsar. Gorlin-Goltz, Parry-Romberg, Lipoid proteinoz ve Proteus sendromu gibi örnekler, farklı genetik mutasyonlara bağlı olarak gelişen ve multidisipliner takip gerektiren bu hastalık …

Pediatrik Nöroloji Hastalarında Öykü

Sevgi Çıraklı, Mehmet Canpolat, Sefer Kumandaş

Çocuk nöroloji hastalarında doğru tanıya ulaşmanın en kritik adımı, hastanın tıbbi öyküsünün kapsamlı ve sistematik bir şekilde alınmasıdır. Bu süreçte demografik bilgilerden başlayarak gebelik dönemi, doğum anı ve doğum sonrası gelişim basamakları gibi detaylı bir özgeçmiş ile ailedeki genetik yatkınlıklar titizlikle sorgulanmalıdır. …