Browsing by Author "Kılıç, Betül"
Now showing items 1-15 of 15
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Acute flaccid myelitis outbreak through 2016-2018: A multicenter experience from Turkey
Ünver, Olcay; Türkdoğan, Dilşad; Güler, Serhat; Kipoğlu, Osman; Güngör, Mesut; Paketçi, Cem; Carman, Kürşat Bora; Öztürk, Gülten; Maraş Genç, Hülya; Özkan, Mehpare; Olgaç Dündar, Nihal; Işık, Uğur; Karatoprak, Elif; Kılıç, Betül; Özkale, Murat; Bayram, Erhan; Yarar, Coşkun; Sözen, Hatice Gülhan; Sager, Güneş; Sakarya Güneş, Ayfer; Kahraman Koytak, Pınar; Karadağ Saygı, Evrim; Ekinci, Gazanfer; Saltık, Sema; Çalışkan, Mine; Kara, Bülent; Yiş, Uluç; Aydınlı, Nur (Elsevier Science Ltd., 2021)Aim: We aim to describe the demographic characteristics, etiology, neurophysiology, imaging findings, treatment, prognosis, and prognostic factors of acute flaccid myelitis. Methods: The clinical data, laboratory test and, ... -
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 ... -
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 ... -
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 immunization status in patients with cerebral palsy: A multicenter CP-VACC study
Bozkaya Yılmaz, Sema; Karadağ Öncel, Eda; Olgaç Dündar, Nihal; Gençpınar, Pınar; Sarıoğlu, Berrak; Arıcan, Pınar; Ersen, Atilla; Yılmaz Çiftdoğan, Dilek; Yüksel, Merve Feyza; Bektaş, Ömer; Teber, Serap; Kılıç, Betül; Çalık, Mustafa; Karaca, Meryem; Canpolat, Mehmet; Kumandaş, Sefer; Per, Hüseyin; Gümüş, Hakan; Öztürk, Selcan; Okuyaz, Çetin; Kömür, Mustafa; İpek, Rojan; Özbudak, Pınar; Arhan, Ebru; İnce, Hülya; Gürbüz, Gürkan; Mert, Gülen Gül; Özcan, Neslihan; Ölmez Türker, Akgün; Gazeteci Tekin, Hande; Kırık, Serkan; Günbey, Ceren; Çarman, Kürşat Bora; Yarar, Coşkun; Çavuşoğlu, Dilek (Springer, 2022)Children with chronic neurological diseases, including cerebral palsy (CP), are especially susceptible to vaccine-preventable infections and face an increased risk of severe respiratory infections and decompensation of ... -
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. ... -
First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotype
Ayaz, Akif; Doğru, Zeynep; Kılıç, Betül; Süzek, Barış Ethem (Elsevier B.V., 2022)Familial acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur after common viral infections at different stages of life. The clinical findings of 2 siblings diagnosed with ANE were ... -
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Mitani, Tadahiro; Işıkay, Sedat; Gezdirici, Alper; Yılmaz Güleç, Elif; Punetha, Jaya; Fatih, Jawid M.; Herman, Isabella; Akay, Gülşen; Du, Haowei; Calame, Daniel G.; Ayaz, Akif; Tos, Tülay; Yeşil, Gözde; Aydın, Hatip; Geçkinli, Bilgen; Elçioğlu, Nursel; Candan, Şükrü; Sezer, Özlem; Bağış Erdem, Haktan; Gül, Davut; Demiral, Emine; Elmas, Muhsin; Yesilbaş, Osman; Kılıç, Betül; Güngör, Serdal; Ceylan, Ahmet C.; Bozdoğan, Sevcan; Özalp, Özge; Çiçek, Salih; Aslan, Hüseyin; Yalçıntepe, Sinem; Topçu, Vehap; Bayram, Yavuz; Grochowski, Christopher M.; Jolly, Angad; Dawood, Moez; Duan, Ruizhi; Jhangiani, Shalini N.; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M.; Marafi, Dana; Çoban Akdemir, Zeynep; Karaca, Ender; Carvalho, Claudia M. B.; Gibbs, Richard A.; Posey, Jennifer E.; Lupski, James R.; Pehlivan, Davut (Cell Press, 2021)Neurodevelopmental disorders (NDD5) are clinically and genetically heterogenous; many such disorders are secondary to perturbation in brain development and/or function. The prevalence of NDD5 is > 3%, resulting in significant ... -
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: ... -
Smith-magenis syndrome: Clues in the clinic
Akkuş, Nejmiye; Kılıç, Betül; Özyavuz Çubuk, Pelin (Georg Thieme Verlag KG, 2020)As a multisystemic congenital mental retardation disorder/anomaly, Smith-Magenis syndrome (SMS) is commonly aroused from de novo interstitial deletion of the 17p11.2 chromosome. The deletion of this chromosome results with ... -
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 ...
