Browsing by Author "Aydın, Kürşad"
Now showing items 1-20 of 32
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Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease?
Kamaşak, Tülay; Havalı, Cengiz; İnce, Hülya; Eyüboğlu, İlker; Çebi, Alper Han; Şahin, Sevim; Cansu, Ali; Aydın, Kürşad (Elsevier Sci Ltd, 2018)Background: Biotin-thiamine responsive basal ganglia disease (BTBGD) is an autosomal recessive disorder caused by mutations in the SLC19A3 gene and characterized by recurrent sub-acute episodes of encephalopathy that ... -
Brain magnetic resonance imaging findings of pediatric hemophagocytic lymphohistiocytosis could be diagnostic and life-saving
Aydın, Kürşad; Kılıç, Betül; Topçu, Yasemin; Telhan, Leyla; Dolu, Merve Hilal; Kartal, Ayşe (Elsevier Inc., 2022)Background: Hemophagocytic lymphohistiocytosis (HLH) is a rare and fatal disease and may also present with central nervous system findings at the beginning without specific diagnostic criteria. Brain magnetic resonance ... -
Cerebral neoplasm in L-2-hydroxyglutaric aciduria: Two different presentations
Dilber, Beril; Havalı, Cengiz; Eroǧlu, Nilgün; Aydın, Kürşad; Şahin, Sevim; Cansu, Ali (Springer, 2020)Background: L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder characterized by a slowly progressive clinical course, psychomotor and mental retardation, macrocephaly, dysarthria, seizures, and cerebellar ... -
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
Aksu Uzunhan, Tuğçe; Ertürk, Biray; Aydın, Kürşad; Ayaz, Akif; Altunoğlu, Umut; Yarar, Murat Hakkı; Gezdirici, Alper; İçağasıoğlu, Dilara Füsun; Gökpınar İli, Ezgi; Uyanık, Bülent; Eser, Metin; Kutbay, Yaşar Bekir; Topçu, Yasemin; Kılıç, Betül; Bektaş, Gonca; Arduç Akçay, Ayfer; Ekici, Barış; Chousein, Amet; Avcı, Şahin; Yüksel, Atıl; Kayserili, Hülya (Elsevier B.V., 2023)Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert ... -
Clinical, genetic, and outcome characteristics of pediatric patients with primary hemophagocytic lymphohistiocytosis
Nepesov, Serdar; Yaman, Yöntem; Elli, Murat; Bayram, Nihan; Özdilli, Kürşat; Kıykım, Ayça; Çakır, Deniz; Kılıç, Betül; Aydın, Kürşad; Ayaz, Akif; Telhan, Leyla; Anak, Sema (AVES, 2022)Objectİive: In this study, we sought to describe the clinical, laboratory, and genetic characteristics of patients diagnosed with primary hemophagocytic lymphohistiocytosis. Thus, we aimed to evaluate the early diagnosis ... -
The effectiveness and tolerability of clobazam in the pediatric population: Adjunctive therapy and monotherapy in a large-cohort multicenter study
Kamaşak, Tülay; Serdaroğlu, Esra; Yılmaz, Özlem; Aydın Kılıç, Betül; Gönüllü Polat, Burçin; Erdoğan, Irmak; Yücel Şen, A. Derda; Özen, Nalan; Durgut, Betül Diler; Yıldız, Nihal; Özkan Kart, Pınar; Dilber, Beril; Acar Arslan, Elif; Şahin, Sevim; Topçu, Yasemin; Gençpınar, Pınar; Serin, Hepsen Mine; Hız, Semra A.; Çarman, Kürşat Bora; Olgaç Dündar, Nihal; Okuyaz, Çetin; Aydın, Kürşad; Serdaroğlu, Ayşe; Tekgül, Hasan; Cansu, Ali (Elsevier B.V., 2022)Objective: To evaluate the effectiveness and tolerability of clobazam therapy in the pediatric population in terms of seizure semiology, epileptic syndromes, and etiological subgroups. Methods: A retrospective cohort study ... -
Effects of antiepileptic drugs on dynamic thiol/disulphide homeostasis in children with idiopathic epilepsy
Arhan, Ebru; Çıtak Kurt, Ayşegül Neşe; Neşelioğlu, Salim; Yerel, Özcan; Koç Uçar, Habibe; Aydın, Kürşad; Serdaroğlu, Ayşe (W B Saunders Co Ltd, 2019)Purpose: Anti-epileptic drugs have been widely used in children with epilepsy. Although several studies have investigated the role of oxidative stress and the effects of antiepileptic drugs on several oxidative markers in ... -
Effects of sulthiame on seizure frequency and EEG in children with electrical status epilepticus during slow sleep
Topçu, Yasemin; Kılıç, Betül; Gazeteci Tekin, Hande; Aydın, Kürşad; Turanlı, Güzide (Academic Press Inc., 2021)Objective: It is argued that early and adequate treatment of electrical status epilepticus in sleep (ESES) is essential to preserve cognitive functions and possibly recovering lost skills. Although antiepileptic drugs ... -
Evaluation of micronutrient levels in children with cerebral palsy
Çarman, Kürşat Bora; Aydın, Kürşad; Kılıç Aydın, Betül; Cansu, Ali; Çobanoğulları Direk, Meltem; Durmuş, Selver; Olgaç Dündar, Nihal; Gençpınar, Pınar; Güngör, Serdal; Gürkaş, Esra; Hür, Özgen; Karadağ, Meral; Karademir, Cefa Nil; Özkan Kart, Pınar; Okuyaz, Çetin; Pedük, Yakup; Per, Hüseyin; Serin, Mine Hepsen; Tekgül, Hasan; Ünay, Bülent; Yarar, Coşkun; Kılıç Yıldırım, Gonca (Wiley, 2022)Background Many studies evaluating the nutritional status of children with cerebral palsy (CP) have focused on energy requirements and protein intake. The present work aimed to assess nutritional status and micronutrient ... -
Evaluation of suicide probability in children and adolescents with epilepsy
Miniksar, Dilşad Yıldız; Kılıç, Betül; Kılıç, Mahmut; Miniksar, Ökkeş Hakan; Topçu, Yasemin; Aydın, Kürşad (Wiley, 2022)Background We aimed to examine suicide probability, factors affecting suicide, and personality traits of children and adolescents diagnosed with epilepsy, and to compare their results with those of children without epilepsy. ... -
A female case of 5,10-methenyltetrahydrofolate synthetase deficiency with novel neuro-imaging abnormalities
Çavuşoglu, Dilek; Köse, Melis; Er, Esra; Elmas, Muhsin; Gençpınar, Pınar; Dündar, Nihal Olgaç; Aydın, Kürşad (Elsevier, 2022)Background: Folate metabolism disorders can affect various organ systems, including the nervous system. 5,10-methenyltetrahydrofolate synthetase deficiency is a rare cerebral folate deficiency in which MTHFS activity is ... -
First case of MELAS syndrome presenting with local brain edema requiring decompressive craniectomy
Yeşilbaş, Osman; Şengenç, Esma; Ersoy Olbak, Melike; Bako, Derya; Nizam, Öznur Gökçe; Seyithanoğlu, Mehmet Hakan; Pehlivan, Davut; Ceylaner, Serdar; İçağasıoğlu, Dilara; Aydın, Kürşad (Turkish Neurosurgical Society, 2022)Mitochondrial encephalomyopathy, lactic acidosis, and recurrent stroke-like episodes (MELAS) syndrome is a rare but one of the most common maternally inherited multisystem disorder. Although patients with MELAS present a ... -
A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation
Aksu Uzunhan, Tuğçe; Çakar, Nafiye Emel; Seyhan, Serhat; Aydın, Kürşad (Elsevier, 2020)Background: Genetic defects in the NFU1, an iron-sulfur cluster scaffold protein coding gene, which is vital in the final stage of assembly for iron sulfur proteins, have been defined as multiple mitochondrial dysfunctions ... -
High rates of malnutrition and epilepsy: Two common comorbidities in children with cerebral palsy
Aydın, Kürşad; Kartal, Ayşe; Keleş Alp, Esma (Tubitak Scientıfic & Technical Research Council Turkey, 2019)Background/aim: The aim of this study was to evaluate the nutritional status of children with cerebral palsy and determine the particular characteristics of the disorder. Materials and methods: The nutritional status of ... -
How do children with drug-resistant epilepsy sleep? A clinical and video-PSG study
Arhan, Ebru; Koç Uçar, Habibe; Aydın, Kürşad; Lüleci Hirfanoǧlu, Tuǧba; Serdaroğlu, Ayşe (Academic Press Inc Elsevier Science, 2021)Aim: The aim of this study was to assess sleep architecture and sleep problems among three homogenous groups of children including children with drug-resistant focal epilepsy, children with newly diagnosed, drug-naive focal ... -
Hypomyelination and congenital cataract: Three siblings presentation
Karalök, Zeynep Selen; Gürkaş Esra; Aydın, Kürşad; Ceylaner, Serdar (Wolters Kluwer Medknow Publications, 2020)Hypomyelination and congenital cataract (HCC) is a condition, which is caused by mutations in the FAM126A gene and is characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in both ... -
The impact of COVID-19 pandemic and quarantine process a center in Turkey on anxiety levels of pediatric patients with epilepsy
Miniksar, Dilşad Yıldız; Kılıç, Betül; Kaytan, İsmail; Özpınar, Esra; Miniksar, Ökkeş Hakan; Topçu, Yasemin; Aydın, Kürşad (Bursa Uludag University, 2022)Introduction: In this study, we aimed to compare the levels of state and trait anxiety in pediatric patients with epilepsy and healthy controls during the COVID-19 outbreak in Turkey. Materials and Methods: In this study, ... -
Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia
Ayaz, Akif; Aksu Uzunhan, Tuğçe; Aydın, Kürşad (Elsevier, 2022)Background: Today, it is known that about 80 genes are involved in the etiology of hereditary spastic paraplegia. However, there are many cases whose etiology could not be determined by extensive genetic tests such as ... -
ITPA related developmental encephalopathy: Key role of neuroimaging
Çavuşoğlu, Dilek; Ataseven Kulali, Melike; Olgaç Dündar, Nihal; Özer Gökaslan, Çiğdem; Aydın, Kürşad (Wolters Kluwer Medknow Publications, 2022)A 4-month-old girl presented with poor head control. She was born at term without complications. Parents were nonconsanguineous but from the same village. Her neurological examination revealed normal deep tendon reflexes ... -
Magnetic resonance imaging patterns of subacute sclerosing panencephalitis may mimic metabolic disorders: Clinical, electroencephalographic and imaging features of six cases
Arhan, Ebru; Akbaş, Yılmaz; Serdaroğlu, Ayşe; Çobanoğulları Direk, Meltem; Okuyaz, Çetin; Havalı, Cengiz; Aydın, Kürşad (Springer Heidelberg, 2021)Subacute sclerosing panencephalitis is a rare, devastating neurodegenerative encephalitis whose diagnosis and therapy are still in question. Atypical clinical presentation and heterogeneity of neuroimaging findings that ...
