Browsing by Author "Topçu, Yasemin"
Now showing items 1-14 of 14
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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 ... -
Characteristics of pediatric multiple sclerosis: The Turkish pediatric multiple sclerosis database
Yılmaz, Ünsal; Anlar, Banu; Gücüyener, Kıvılcım; Yaramış, Ahmet; Cansu, Ali; Ünalp, Ayçan; Aksoy, Ayşe; Kaçar Bayram, Ayşe; Kartal, Ayşe; Tosun, Ayşe Fahriye; Serdaroğlu, Ayşe; Konuşkan, Bahadır; Sarıoğlu, Berrak; Yüzbaşı Kıpçak, Beste; Kılıç Aydın, Betül; Taşkın Dilge, Birce; Bulut, Cahide; Yılmaz, Cahide; Yarar, Coşkun; Okuyaz, Çetin; Gençsel, Çiğdem; Yüksel, Deniz; Arslan Bengi, Elif; Gürkaş, Esra; Faruk, İncecik; Serdaroğlu, Gül; Deda, Gülhis; Gürbüz, Gürkan; Gümüş, Hakan; Acer, Hamit; Tekgül, Hasan; Çaksen, Hüseyin; Per, Hüseyin; Erol, İlknur; Çarman Kürşat, Bora; Canpolat, Mehmet; Özkan, Mehpare; Direk Çobanoğulları, Meltem; Kutluk Gültekin, Muhammed; Arslan, Mutluay; Sönmez, Fatma Müjgan; Dündar, Olgaç Nihal; Koçak, Ozan; Aydın, Ömer Faruk; Toptaş, Özge; Duman, Özgür; Hergüner, Mihriban Özlem; Bozkurt, Öznur; Arıcan, Pınar; Yılmaz Keskin, Sanem; Gökben, Sarenur; Işıkay, Şedat; Kumandaş, Sefer; Edizer, Selvinaz; Kurul Hız, Semra; Saygı, Semra; Teber Tiraş, Serap; Güngör, Serdal; Altunbaşak, Şakir; Haspolat, Şenay; Sezer, Taner; Yılmaz Sevim, Tuba; Yiş, Ulaç; Öztoprak, Ülkühan; Aydoğmuş, Ümmü; Topçu, Yasemin; Öztürk, Zeynep; Karalök, Zeynep Selen (W.B. Saunders Ltd, 2017)Objective To document the clinical and paraclinical features of pediatric multiple sclerosis (MS) in Turkey. Methods Data of MS patients with onset before age 18 years (n = 193) were collected from 27 pediatric neurology ... -
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 ... -
Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia
Gerlevik, Umut; Saygı, Ceren; Cangül, Hakan; Kutlu, Aslı; Çaralan, Erdal Fırat; Topçu, Yasemin; Özören, Nesrin; Sezerman, Osman Uğur (Public Library of Science, 2022)Background Periventricular nodular heterotopia (PNH) is a cell migration disorder associated with mutations in Filamin-A (FLNA) gene on chromosome X. Majority of the individuals with PNHassociated FLNA mutations are female ... -
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 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 ... -
Epileptic encephalopathy with electrical status epilepticus during slow sleep: Evaluation of treatment response from a tertiary center
Kılıç, Betül; Acar, Mecit; Topçu, Yasemin; Turanlı, Güzide (Turkish Journal of Pediatric, 2022)Background. This study aimed to evaluate the clinical, electrophysiological, etiological features, and treatment response in children with epileptic encephalopathy with electrical status epilepticus during slow sleep (ESES). ... -
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. ... -
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, ... -
The new trend for antiseizure medication selection in juvenile myoclonic epilepsy: A retrospective multi-center study from Turkey between 2010 and 2020
Aydın, Kürşad; Kılıç, Betül; Serdaroğlu, Esra; Gönüllü Polat, Burçin; İnce, T.; Esenülkü, Gülnur; Topçu, Yasemin; Serdaroğlu, Ayşe; Haspolat, Şenay; Tekgül, Hasan; Okuyaz, Çetin; Cansu, Ali (Wiley, 2022)... -
A rare cause of globus pallidus and dentate nucleus hyperintensity in childhood: MBOAT mutation
Özpınar, Esra; Kaytan, İsmail; Topçu, Yasemin; Kılıç, Betül; Aydın, Kürşad (Wolters Kluwer Medknow Publications, 2021)Mutations in mammalian membrane-bound O-acyltransferase domain-containing (MBOAT) 7 gene are a rare cause for intellectual disability, developmental delay, autistic findings, epilepsy, truncal hypotonia with appendicular ... -
Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease
Kılıç, Betül; Topçu, Yasemin; Dursun, Şiar; Erol, İlknur; Dolu, Merve Hilal; Taşdemir, Haydar Ali; Aydın, Kürşad (Elsevier, 2020)Aim: To present seven new genetically confirmed cases of biotin-thiamin-responsive basal ganglia disease (BTBGD) with different clinical and brain magnetic resonance imaging (MRI) characteristics. Material and methods: ... -
Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients
Öztürk, Gülten; Ayaz, Akif; Topçu, Yasemin; Akyüz, Gülcan; Ünver, Olcay; Akbeyaz, İsmail; Ekinci, Gazanfer; Türkdoğan, Dilşad (Wolters Kluwer Medknow Publications, 2022)Two patients with the same genetic mutation in ADPRHL2 gene, which takes a role in DNA repair, transcription, telomer function, and apoptosis are presented.[1] Developmental delay, intellectual disability, epilepsy, ... -
Trends in the choice of antiseizure medications in juvenile myoclonic epilepsy: A retrospective multi-center study from Turkey between 2010 and 2020
Kılıç, Betül; Serdaroğlu, Esra; Gönüllü Polat, Burçin; İnce, Tuğçe; Esenülkü, Gülnur; Topçu, Yasemin; Serdaroğlu, Ayşe; Haspolat, Şenay; Tekgül, Hasan; Okuyaz, Çetin; Cansu, Ali; Aydın, Kürşad (W.B. Saunders Ltd, 2022)Purpose:Valproic acid (VPA) is frequently used and effective in juvenile myoclonic epilepsy (JME). Recently, levetiracetam (LEV) has been suggested as a monotherapy in JME. This study aimed to evaluate antiseizure medication ...
