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TÜRKDOĞAN, DİLŞAD

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    PublicationOpen Access
    A novel truncating mutation of DOCK7 gene with an early-onset non-encephalopathic epilepsy
    (W B SAUNDERS CO LTD, 2019-03) TÜRKDOĞAN, DİLŞAD; Turkdogan, Dilsad; Turkyilmaz, Ayberk; Gormez, Zeliha; Sager, Gunes; Ekinci, Gazanfer
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    PublicationOpen Access
    Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy
    (W B SAUNDERS CO LTD, 2017-08) TÜRKDOĞAN, DİLŞAD; Turkdogan, Dilsad; Usluer, Sunay; Akalin, Figen; Agyuz, Umut; Aslan, Elif Sibel
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    PublicationOpen Access
    Polygenic burden in focal and generalized epilepsies
    (2019-11-01) TÜRKDOĞAN, DİLŞAD; Leu, Costin; Stevelink, Remi; Smith, Alexander W; Goleva, Slavina B; Kanai, Masahiro; Ferguson, Lisa; Campbell, Ciaran; Kamatani, Yoichiro; Okada, Yukinori; Sisodiya, Sanjay M; Cavalleri, Gianpiero L; Koeleman, Bobby P C; Lerche, Holger; Jehi, Lara; Davis, Lea K; Najm, Imad M; Palotie, Aarno; Daly, Mark J; Busch, Robyn M; Epi25 Consortium; Lal, Dennis
    Abstract Rare genetic variants can cause epilepsy, and genetic testing has been widely adopted for severe, paediatric-onset epilepsies. The phenotypic consequences of common genetic risk burden for epilepsies and their potential future clinical applications have not yet been determined. Using polygenic risk scores (PRS) from a European-ancestry genome-wide association study in generalized and focal epilepsy, we quantified common genetic burden in patients with generalized epilepsy (GE-PRS) or focal epilepsy (FE-PRS) from two independent non-Finnish European cohorts (Epi25 Consortium, n = 5705; Cleveland Clinic Epilepsy Center, n = 620; both compared to 20 435 controls). One Finnish-ancestry population isolate (Finnish-ancestry Epi25, n = 449; compared to 1559 controls), two European-ancestry biobanks (UK Biobank, n = 383 656; Vanderbilt biorepository, n = 49 494), and one Japanese-ancestry biobank (BioBank Japan, n = 168 680) were used for additional replications. Across 8386 patients with epilepsy and 622 212 population controls, we found and replicated significantly higher GE-PRS in patients with generalized epilepsy of European-ancestry compared to patients with focal epilepsy (Epi25: P = 1.64×10−15; Cleveland: P = 2.85×10−4; Finnish-ancestry Epi25: P = 1.80×10−4) or population controls (Epi25: P = 2.35×10−70; Cleveland: P = 1.43×10−7; Finnish-ancestry Epi25: P = 3.11×10−4; UK Biobank and Vanderbilt biorepository meta-analysis: P = 7.99×10−4). FE-PRS were significantly higher in patients with focal epilepsy compared to controls in the non-Finnish, non-biobank cohorts (Epi25: P = 5.74×10−19; Cleveland: P = 1.69×10−6). European ancestry-derived PRS did not predict generalized epilepsy or focal epilepsy in Japanese-ancestry individuals. Finally, we observed a significant 4.6-fold and a 4.5-fold enrichment of patients with generalized epilepsy compared to controls in the top 0.5% highest GE-PRS of the two non-Finnish European cohorts (Epi25: P = 2.60×10−15; Cleveland: P = 1.39×10−2). We conclude that common variant risk associated with epilepsy is significantly enriched in multiple cohorts of patients with epilepsy compared to controls—in particular for generalized epilepsy. As sample sizes and PRS accuracy continue to increase with further common variant discovery, PRS could complement established clinical biomarkers and augment genetic testing for patient classification, comorbidity research, and potentially targeted treatment.
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    PublicationOpen Access
    Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy
    (2013-02) TÜRKDOĞAN, DİLŞAD; Møller, Rikke S.; Weber, Yvonne G.; Klitten, Laura L.; Trucks, Holger; Muhle, Hiltrud; Kunz, Wolfram S.; Mefford, Heather C.; Franke, Andre; Kautza, Monika; Wolf, Peter; Dennig, Dieter; Schreiber, Stefan; Rückert, Ina-Maria; Wichmann, H.-Erich; Ernst, Jan P.; Schurmann, Claudia; Grabe, Hans J.; Tommerup, Niels; Stephani, Ulrich; Lerche, Holger; Hjalgrim, Helle; Helbig, Ingo; Sander, Thomas; EPICURE Consortium
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    PublicationOpen Access
    Respiratory outcome of spinal muscular atrophy type 1 patients treated with nusinersen
    (2022-01-01) ERGENEKON, ALMALA PINAR; ÖZTÜRK THOMAS, GÜLTEN; ÜNVER, OLCAY; TÜRKDOĞAN, DİLŞAD; KARADAĞ, BÜLENT TANER; ERDEM ERALP, ELA; ERGENEKON A. P., YILMAZ YEĞİT C., Cenk M., GÖKDEMİR Y., ERDEM ERALP E., ÖZTÜRK G., ÜNVER O., Coskun O. K., Saygi E. K., TÜRKDOĞAN D., et al.
    Background Respiratory failure is the leading cause of mortality in spinal muscular atrophy type 1 (SMA1) children. The current study aims to evaluate the effect of nusinersen treatment on respiratory outcome of the patients with SMA1. Methods In this retrospective, single-center study, 52 SMA1 patients treated with nusinersen were included in the analysis. Patients were divided into two groups based on their age at the time of their first nusinersen treatment (Group 1: 6 months). Respiratory outcome on the 180th day of treatment is defined as the type of ventilation support (spontaneous breathing, noninvasive ventilation (NIV), and tracheostomized or intubated on invasive mechanical ventilation). Demographic data, respiratory outcome, and Children\"s Hospital of Philadelphia Infant Test of Neuromuscular Disorders scores were obtained from medical records. Results On the 180th day of treatment, 46 of the 52 (88.4%) children were alive. Prevalence of the mortality was similar in both groups (P = 0.65). The comparison of respiratory outcome in patients between group 1 and group 2 was as follows: spontaneous breathing, 7 (43.7%) versus 4 (13.3%) (P = 0.03); NIV = 16 h/day. There were significant improvements in Children\"s Hospital of Philadelphia Infant Test of Neuromuscular Disorders scores of the patients at day 180 in comparison with the baseline (P < 0.001). Conclusions Early initiation of nusinersen treatment in SMA1 patients may alter the disease\"s natural course.
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    PublicationOpen Access
    Evaluation of vestibular functions in children with vertigo attacks
    (BMJ PUBLISHING GROUP, 2003-06-01) TÜRKDOĞAN, DİLŞAD; Uneri, A; Turkdogan, D
    Aim: To examine vestibular system functions in children with episodic vertigo attacks. Methods: Thirty four children (20 males) aged 4-18 years with paroxysmal dizziness and/or vertigo attacks were evaluated. A medical history for vestibular symptoms and migraine was taken. Vestibular and auditory functions were assessed. Results: Chronic headache attacks consistent with migraine were reported in 12 children and motion sickness was reported in 30. Family history in first degree relatives was positive for migraine in 29 children and for episodic vertigo in 22. Electronystagmography and videonystagmography showed two types of nystagmus: spontaneous vestibular nystagmus (41%) and benign paroxysmal positional nystagmus (BPPN) (59%). The first type of nystagmus was assessed as a sign of vestibulopathy and the patients with BPPN were diagnosed as having benign paroxysmal positional vertigo (BPPV). Audiometric examination in four cases revealed bilateral sensory neural hearing loss in low frequencies. Pure tone averages in 30 cases were within normal ranges; however low frequencies in 28 of them were approximately 10 dB lower than high frequencies. Unilateral caloric responses diminished in eight children. Conclusions: Peripheral vestibular problems in childhood present in a wide spectrum, which varies from a short episode of dizziness to a typical vestibular attack with fluctuating sensory neural hearing loss or episodes of BPPV. A considerable number of these vestibular problems might be related to the migraine syndrome.
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    PublicationOpen Access
    Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32
    (2012-12-15) TÜRKDOĞAN, DİLŞAD; EPICURE Consortium; EMINet Consortium; Steffens, M.; Leu, C.; Ruppert, A.-K.; Zara, F.; Striano, P.; Robbiano, A.; Capovilla, G.; Tinuper, P.; Gambardella, A.; Bianchi, A.; La Neve, A.; Crichiutti, G.; de Kovel, C. G. F.; Kasteleijn-Nolst Trenite, D.; de Haan, G.-J.; Lindhout, D.; Gaus, V.; Schmitz, B.; Janz, D.; Weber, Y. G.; Becker, F.; Lerche, H.; Steinhoff, B. J.; Kleefuss-Lie, A. A.; Kunz, W. S.; Surges, R.; Elger, C. E.; Muhle, H.; von Spiczak, S.; Ostertag, P.; Helbig, I.; Stephani, U.; Moller, R. S.; Hjalgrim, H.; Dibbens, L. M.; Bellows, S.; Oliver, K.; Mullen, S.; Scheffer, I. E.; Berkovic, S. F.; Everett, K. V.; Gardiner, M. R.; Marini, C.; Guerrini, R.; Lehesjoki, A.-E.; Siren, A.; Guipponi, M.; Malafosse, A.; Thomas, P.; Nabbout, R.; Baulac, S.; Leguern, E.; Guerrero, R.; Serratosa, J. M.; Reif, P. S.; Rosenow, F.; Morzinger, M.; Feucht, M.; Zimprich, F.; Kapser, C.; Schankin, C. J.; Suls, A.; Smets, K.; De Jonghe, P.; Jordanova, A.; Caglayan, H.; Yapici, Z.; Yalcin, D. A.; Baykan, B.; Bebek, N.; Ozbek, U.; Gieger, C.; Wichmann, H.-E.; Balschun, T.; Ellinghaus, D.; Franke, A.; Meesters, C.; Becker, T.; Wienker, T. F.; Hempelmann, A.; Schulz, H.; Ruschendorf, F.; Leber, M.; Pauck, S. M.; Trucks, H.; Toliat, M. R.; Nurnberg, P.; Avanzini, G.; Koeleman, B. P. C.; Sander, T.
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    PublicationOpen Access
    Effect of Nusinersen treatment on motor functions in children and adolescents with spinal muscular atrophy who gave a break to physiotherapy during covid-19 pandemic
    (2022-01-01) TÜRKDOĞAN, DİLŞAD; KARADAĞ SAYGI, NAİME EVRİM; ÜNVER, OLCAY; Ozturk G., Saygi E. K., ÜNVER O., TÜRKDOĞAN D.
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    PublicationOpen Access
    Transient Splenial Lesion of the Corpus Callosum Related to Migraine with Aura in a Pediatric Patient
    (2016) TÜRKDOĞAN, DİLŞAD; Ünver, Olcay; Kutlubay, Büşra; Besci, Tolga; Ekinci, Gazanfer; Baltacıoğlu, Feyyaz; Türkdoğan, Dilşad
    Background: Transient splenial lesions of the corpus callosum are rare radiological findings first described in association with epilepsy, antiepileptic drugs and viral encephalitis. However, subsequently more cases were described associated with diverse clinical conditions. Case report: We describe a 13-year-old girl suffering from migraine with aura presenting with headache, right-sided hemiparesis and encephalopathy. Brain magnetic resonance imaging revealed an ovoid lesion in the splenium of the corpus callosum. The patient’s neurological symptoms resolved within 3 days without therapy and the lesion disappeared in follow up magnetic resonance images obtained 3 weeks after the onset of the symptoms. Results: Migraine with aura was considered to be the cause of the lesion. To our knowledge the present case is the first report of a pediatric patient with a diagnosis of migraine with aura presenting with hemiparesis and encephalopathy. Conclusions: A diagnosis of transient lesion of the corpus callosum should be suspected in patients with migraine with aura presenting with hemiparesis and encephalopathy. A mild course and a good prognosis might be expected in the presence of a splenial lesion of the corpus callosum.
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    PublicationOpen Access
    GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
    (2023-01-01) TÜRKDOĞAN, DİLŞAD; Stevelink R., Campbell C., Chen S., Abou-Khalil B., Adesoji O. M., Afawi Z., Amadori E., Anderson A., Anderson J., Andrade D. M., et al.
    Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment.