Kurum Yazarı "Topçu, Yasemin" Makale Koleksiyonu İçin Listeleme
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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 ... -
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 ... -
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, ... -
A multicenter study of self-limited epilepsy with centrotemporal spikes: Effectiveness of antiseizure medication with respect to spike-wave index
Dilber, Beril; Serdaroğlu, Esra; Kanmaz, Seda; Kılıç, Betül; İpek, Rojan; Kargın Menderes, Deniz; Yıldız, Nihal; Topçu, Yasemin; Arhan, Ebru Petek; Serdaroğlu, Ayşe; Okuyaz, Çetin; Aydın, Kürşad; Tekgül, Hasan; Cansu, Ali (Elsevier Inc., 2024)Background: There is no certain validated electroencephalographic (EEG) parameters for outcome prediction in children with self-limited epilepsy with centrotemporal spikes. To assess the effectiveness of antiseizure ... -
Shared biological pathways and processes in patients with intellectual disability: A multicenter study
Günay, Çaǧatay; Aykol, Duygu; Özsoy, Özlem; Sönmezler, Ece; Hancı, Yaren Sena; Kara, Bülent; Akkoyunlu Sünnetçi, Deniz; Çine, Naci; Deniz, Adnan; Öztürk, Gülten (Georg Thieme Verlag, 2023)Background Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not ... -
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 ...