ORCID "0000-0003-1513-6149" Makale Koleksiyonu için listeleme
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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 ... -
MRI in CLN2 disease patients: Subtle features that support an early diagnosis
Aydın, Kürşad; Havalı, Cengiz; Kartal, Ayşe; Serdaroğlu, Ayşe; Haspolat, Şenay (Elsevier Science Ltd, 2020)Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare, paediatric-onset, neurodegenerative disorder characterised in its early stages by language delay, seizures and loss of motor function. It is rapidly progressive ... -
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 ... -
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 ... -
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 ... -
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: ... -
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 ... -
Utility of brain fluorodeoxyglucose PET in children with possible autoimmune encephalitis
Aydos, Uğuray; Arhan, Ebru; Akdemir, Ümit Özgür; Akbaş, Yılmaz; Aydın, Kürşad; Atay, Lütfiye Özlem; Serdaroğlu, Ayşe (Lippincott Williams & Wilkins, 2020)Purpose We aimed to explore the utility and additional clinical contribution of brain fluorodeoxyglucose (FDG) PET imaging for the assessment of children with possible autoimmune encephalitis in comparison to brain MRI. ... -
Walker Warburg sendromu: İki yenidoğan olgusu
Aktaş, Selma; Karakurt, Tuba Leman; Aydın, Kürşad; Önal, Esra (Logos Medical Publishing, 2018)Walker-Warburg sendromu (WWS) otozomal resesif (OR) geçişgösteren, retinal ve serebral anomaliler ile karakterize bir konjenital muskuler distrofidir. Bu makalede, öyküde akraba evliliğiolan hipotoni, makrosefali, tipik ...