Search

Your search keyword '"Bebek, Nerses"' showing total 593 results
Start Over Author "Bebek, Nerses"
593 results on '"Bebek, Nerses"'

101. Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant ofSLC7A6OS

Author

Mazzola, Laure, primary, Oliver, Karen L., additional, Labalme, Audrey, additional, Baykan, Betül, additional, Muona, Mikko, additional, Joensuu, Tarja H., additional, Courage, Carolina, additional, Chatron, Nicolas, additional, Borsani, Giuseppe, additional, Alix, Eudeline, additional, Ramond, Francis, additional, Touraine, Renaud, additional, Bahlo, Melanie, additional, Bebek, Nerses, additional, Berkovic, Samuel F., additional, Lehesjoki, Anna‐Elina, additional, and Lesca, Gaetan, additional

Published
2020
Full Text
View/download PDF

104. The COVID-19 from Neurological Overview

Author

Acar, Türkan, primary, Acıman Demirel, Esra, additional, Afşar, Nazire, additional, Akçalı, Aylin, additional, Akman Demir, Gülşen, additional, Alagöz, Aybala Neslihan, additional, Angın Mengi, Tuğçe, additional, Arsava, Ethem Murat, additional, Ayta, Semih, additional, Bebek, Nerses, additional, Bilgiç, Başar, additional, Boz, Cavit, additional, Çakar, Arman, additional, Çelebisoy, Neşe, additional, Çevik, Mehmet Uğur, additional, Delen, Firuze, additional, Durmuş Tekçe, Hacer, additional, Ekmekçi, Hakan, additional, Elmalı, Ayşe Deniz, additional, Erdinç, Oğuz Osman, additional, Erdoğan, Füsun Ferda, additional, Eren, Fettah, additional, Ergün, Ufuk, additional, Parman, Yeşim Gülşen, additional, Gümüş, Haluk, additional, İlhan Algın, Demet, additional, Karabudak, Rana, additional, Karadaş, Ömer, additional, Kayım Yıldız, Özlem, additional, Koç, Emine Rabia, additional, Özbabalık Adapınar, Demet, additional, Özdemir, Atilla Özcan, additional, Öztürk, Şerefnur, additional, Sağduyu Kocaman, Ayşe, additional, Şahin, Şevki, additional, Saka Topçuoğlu, Esen, additional, Şener, Özden, additional, Tezer, F. İrsel, additional, Toğrol, Rıfat Erdem, additional, Bora Tokçaer, Ayşe, additional, Topçuoğlu, Mehmet Akif, additional, Tuncer, Neşe, additional, Uca, Ali Ulvi, additional, Uluç, Kayıhan, additional, Yaka, Erdem, additional, and Yön, Mehmet İlker, additional

Published
2020
Full Text
View/download PDF

107. Epilepsy Subtype-Specific Copy Number Burden Observed in a Genome-Wide Study of 17 458 Subjects

Author

Niestroj, Lisa-Marie, Perez-Palma, Eduardo, Howrigan, Daniel P., Zhou, Yadi, Cheng, Feixiong, Saarentaus, Elmo, Nürnberg, Peter, Stevelink, Remi, Daly, Mark J., Palotie, Aarno, Lal, Dennis, Feng, Yen-Chen Anne, Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Churchhouse, Claire, Gupta, Namrata, Neale, Benjamin M., Berkovic, Samuel F., Lerche, Holger, Goldstein, David B., Lowenstein, Daniel H., Cavalleri, Gianpiero L., Cossette, Patrick, Cotsapas, Chris, Dixon-Salazar, Tracy, Guerrini, Renzo, Hakonarson, Hakon, Heinzen, Erin L., Helbig, Ingo, Kwan, Patrick, Marson, Anthony G., Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, Krause, Roland, May, Patrick, McKenna, Kevin, Regan, Brigid M., Bellows, Susannah T., Leu, Costin, Bennett, Caitlin A., Johns, Esther C., Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J., Todaro, Marian, Weckhuysen, Sarah, Stamberger, Hannah, De Jonghe, Peter, Andrade, Danielle M., Sadoway, Tara R., Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Šterbová, Katalin, Vlcková, Markéta, Sedlácková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F., Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J., Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H. T., Barišic, Nina, Delanty, Norman, Doherty, Colin P., Shukralla, Arif, McCormack, Mark, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Muccioli, Lorenzo, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Mameniskiene, Ruta, Utkus, Algirdas, Praninskiene, Ruta, Grikiniene, Jurgita, Samaitiene, Ruta, Sadleir, Lynette G., King, Chontelle, Mountier, Emily, Caglayan, S. Hande, Arslan, Mutluay, Yapici, Zuhal, Yis, Uluc, Topaloglu, Pinar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Asli, Bebek, Nerses, Ugur-Iseri, Sibel, Baykan, Betül, Salman, Baris, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yesim, Özkara, Çigdem, Sheidley, Beth R., Shain, Catherine, Poduri, Annapurna, Buono, Russell J, Ferraro, Thomas N, Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L., Ellis, Colin A., Spalletta, Gianfranco, Piras, Fabrizio, Piras, Federica, Gili, Tommaso, Ciullo, Valentina, YÜCESAN, EMRAH, Niestroj L.-M., Perez-Palma E., Howrigan D.P., Zhou Y., Cheng F., Saarentaus E., Nurnberg P., Stevelink R., Daly M.J., Palotie A., Lal D, Epi 25 Collaborative, Bisulli F., Tinuper P., Licchetta L., and Epi25 Collaborative

Subjects
Developmental and epileptic encephalopathy, Male, 0301 basic medicine, DNA Copy Number Variations, Disease, Bioinformatics, Genome, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, copy number variation, developmental and epileptic encephalopathy, epilepsy, focal epilepsy, genetic generalized epilepsy, medicine, Humans, Genetic Predisposition to Disease, Copy-number variation, Generalized epilepsy, DNA Copy Number Variation, Copy number variation, business.industry, Breakpoint, Focal epilepsy, Original Articles, medicine.disease, 3. Good health, Genetic generalized epilepsy, 030104 developmental biology, Female, Human medicine, Neurology (clinical), Personalized medicine, business, 030217 neurology & neurosurgery, Genome-Wide Association Study, Human
Abstract

Cytogenic testing is routinely applied in most neurological centres for severe paediatric epilepsies. However, which characteristics of copy number variants (CNVs) confer most epilepsy risk and which epilepsy subtypes carry the most CNV burden, have not been explored on a genome-wide scale. Here, we present the largest CNV investigation in epilepsy to date with 10 712 European epilepsy cases and 6746 ancestry-matched controls. Patients with genetic generalized epilepsy, lesional focal epilepsy, non-acquired focal epilepsy, and developmental and epileptic encephalopathy were included. All samples were processed with the same technology and analysis pipeline. All investigated epilepsy types, including lesional focal epilepsy patients, showed an increase in CNV burden in at least one tested category compared to controls. However, we observed striking differences in CNV burden across epilepsy types and investigated CNV categories. Genetic generalized epilepsy patients have the highest CNV burden in all categories tested, followed by developmental and epileptic encephalopathy patients. Both epilepsy types also show association for deletions covering genes intolerant for truncating variants. Genome-wide CNV breakpoint association showed not only significant loci for genetic generalized and developmental and epileptic encephalopathy patients but also for lesional focal epilepsy patients. With a 34-fold risk for developing genetic generalized epilepsy, we show for the first time that the established epilepsy-associated 15q13.3 deletion represents the strongest risk CNV for genetic generalized epilepsy across the whole genome. Using the human interactome, we examined the largest connected component of the genes overlapped by CNVs in the four epilepsy types. We observed that genetic generalized epilepsy and non-acquired focal epilepsy formed disease modules. In summary, we show that in all common epilepsy types, 1.5–3% of patients carry epilepsy-associated CNVs. The characteristics of risk CNVs vary tremendously across and within epilepsy types. Thus, we advocate genome-wide genomic testing to identify all disease-associated types of CNVs.

Published
2020
Full Text
View/download PDF

108. COVID-19 and Epilepsy: Its Effects on Seizures, Treatment and Social Life

Author

VELİOĞLU, SİBEL, Elmali, Ayse Deniz, Bebek, Nerses, Ayta, Semih, ALTINDAĞ, EBRU, ASLAN, KEZBAN, Yeni, Seher Naz, and YILDIRIM, İREM

Abstract

Coronavirus disease 2019 (COVID-19) can be spread rapidly and can be seen in a wide section of society at any age, affecting the whole society, as well as patients with epilepsy. A virus may cause neurological involvement, as well as systemic involvement. There is no evidence that COVID-19 disease triggers or worsens existing epileptic seizures. Seizures can be triggered secondary to the disease. Likewise, it is understood that individuals with epilepsy are not more likely to contract COVID-19 disease, and have not had the disease more seriously. Unless there are additional problems that pose a risk for COVID-19, the antiepileptic drugs used by patients do not pose a risk for infection. When it is necessary to use hydroxychloroquine, azithromycin and similar drugs in the treatment of COVID-19, antiepileptic treatment is recommended to be reviewed and properly regulated. Conditions, such as the use of cold medicines can increase the risk of seizures due to the pseudoephedrine they contain, and the risk of infection with immunomodulating drugs should be specially addressed. The risk of contamination is highest in places like hospital units, especially emergency units. Therefore, measures should be taken to prevent situations that may lead to the unnecessary application of people to the hospitals and the emergency units. During the epidemic period, individuals will try to obtain information using media, social media and websites. That is why it is crucial for health institutions and authorities to provide accurate information and guide the people during the epidemic. Informing people will allow patients to see the risks of the COVID epidemic more accurately and help prevent unnecessary anxiety.

Published
2020

109. COVID-19 and Epilepsy: Its Effects on Seizures, Treatment and Social Life

Author

Elmalı, Ayşe Deniz, Bebek, Nerses, Yıldırım, İrem, Ayta, Semih, Altındağ, Ebru, Aslan, Kezban, Yeni, Seher Naz, and İÜC, Cerrahpaşa Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü

Subjects
prevention, pandemic, SARS-Cov-2, COVID-19, epilepsy, telemedicine
Abstract

Elmali, Ayse Deniz/0000-0001-6380-9550 WOS:000560002600002 Coronavirus disease 2019 (COVID-19) can be spread rapidly and can be seen in a wide section of society at any age, affecting the whole society, as well as patients with epilepsy. A virus may cause neurological involvement, as well as systemic involvement. There is no evidence that COVID-19 disease triggers or worsens existing epileptic seizures. Seizures can be triggered secondary to the disease. Likewise, it is understood that individuals with epilepsy are not more likely to contract COVID-19 disease, and have not had the disease more seriously. Unless there are additional problems that pose a risk for COVID-19, the antiepileptic drugs used by patients do not pose a risk for infection. When it is necessary to use hydroxychloroquine, azithromycin and similar drugs in the treatment of COVID-19, antiepileptic treatment is recommended to be reviewed and properly regulated. Conditions, such as the use of cold medicines can increase the risk of seizures due to the pseudoephedrine they contain, and the risk of infection with immunomodulating drugs should be specially addressed. The risk of contamination is highest in places like hospital units, especially emergency units. Therefore, measures should be taken to prevent situations that may lead to the unnecessary application of people to the hospitals and the emergency units. During the epidemic period, individuals will try to obtain information using media, social media and websites. That is why it is crucial for health institutions and authorities to provide accurate information and guide the people during the epidemic. Informing people will allow patients to see the risks of the COVID epidemic more accurately and help prevent unnecessary anxiety.

Published
2020
Full Text
View/download PDF

110. Nörolojik bakş açsndan COVID-19

Author

Acar, Türkan Atılgan, Demirel, Esra Acıman, Afşar, Nazire, Akçal, Aylin, Demir, Gülşen Akman, Alagöz, Aybala Neslihan, Mengi, Tuğçe Angın, Arsava, Ethem Murat, Ayta, Semih, Bebek, Nerses, Bilgiç, Başar Gar, Boz, Cavit, Çakar, Arman, Çelebisoy, Neşe, Çevik, Mehmet Uǧur, Delen, Firuze, Tekçe, Hacer Durmuş, Ekmekçi, Hakan Ahmet, Elmal, Ayşe Deniz, Erdinç, Oǧuz Osman, Erdoǧan, Füsun Ferda, Eren, Fettah, Ergün, Ufuk, Parman, Yeşim Gülşen, Gümüş, Haluk, Algn, Demet İlhan, Karabudak, Rana, Karada̧s, Ömer, Yıldız, Özlem Kayım, Koç, Emine Rabia, Adapnar, Demet Özbabalk, Özdemir, Atilla Özcan, Öztürk, Şerefnur, Kocaman, Ayşe Saǧduyu, Sahin, Sevki, Topçuoğlu, Esen Saka, Şener, Özden, Tezer, Fadime İrsel, Toğrol, Rıfat Erdem, Tokçaer, Ayşe Bora, Topçuoǧlu, Mehmet Akif, Tuncer, Neşe, Uca, Ali Ulvi, Uluç, K., Yaka, Erdem, Yön, Mehmet İlker, Dicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Nöroloji Ana Bilim Dalı, and Çevik, Mehmet Uǧur

Subjects
Neurological manifestation, Meningoencephalitis, COVID-19
Abstract

WOS:000556540500002 Since December 2019, the disease caused by a new type of coronavirus called “New Coronavirus Disease (COVID-19)” has spread rapidly from Wuhan to other provinces of the Republic of China, and then to the entire world (1). With this pandemic around the world and in Turkey, very strong and shocking changes occurred in the flow of life, lifestyle, habits, education, politics, and the economy. Many issues related to COVID-19 have been discussed in the media, mostly new faces, new opinions, new expressions, mostly of scientists and physicians who have rarely been seen before have started to appear in media. With this fast-developing situation threatening the existence of all humanity, the perception of life, today and the future, has differentiated, and death has been considered more than ever before. In this process, new terms and concepts, which have never been used before or used very little, have started to be used frequently

Published
2020

112. SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCIATED WITH GLUT-1 DEFICIENCY SYNDROME

Author

Ornek Erguzeloglu, Cemre, Kara, Bulent, Karacan, Ilker, Ozdemir, Ozkan, Kesim, Yesim, Bebek, Nerses, Ozbek, Ugur, Ugur Iseri, Sibel Aylin, Ornek Erguzeloglu, Cemre, Kara, Bulent, Karacan, Ilker, Ozdemir, Ozkan, Kesim, Yesim, Bebek, Nerses, Ozbek, Ugur, and Ugur Iseri, Sibel Aylin

Abstract

Objective: Glucose transporter-1 deficiency syndrome (GLUT1- DS) is defined as a metabolic encephalopathy that is associated with heterozygous and usually de novo pathogenic variations in the SLC2A1 (solute carrier family2 member1) gene. Materials and Methods: In this study, all coding exons and neighboring intronic regions of SLC2A1 were Sanger sequenced in 12 patients with clinically suspected GLUT1-DS. For de novo variations revealed after sequencing and segregation analysis, we also performed genome wide Single Nucleotide Polymor- phism (SNP) genotyping to confirm parental relatedness with the proband. In patients without any sequence variations, real-time quantitative real-time polymerase chain reaction (qPCR) was applied to determine the presence of any copy number variations (CNV). Results: Sanger sequencing followed by bioinformatics analysis, segregation in the family and SNP array genotyping revealed two novel and de novo pathogenic variations associated with the GLUT1-DS phenotype in 2 patients. qPCR results were compatible with one copy loss of SLC2A1 gene in another patient. All variations identified herein are likely to have caused null al-leles and resulted in GLUT1-DS through haplo insufficiency. Disscussion : In this study we used a series of molecular genetic approaches in order to identify all possible variations in SLC2A1 that may be associated with GLUT1-DS. This collective effort fa- cilitated diagnosis in 3 patients.

Published
2020

113. Depression is a major determinant of sleep abnormalities in patients with epilepsy

Author

Gürses, Rabia Candan (ORCID 0000-0002-3752-1825 & YÖK ID 110149), Karapınar, Edanur; Yunusoğlu, Ceren; Tekin, Betül; Dede, Hava Özlem; Bebek, Nerses; Baykan, Betül, School of Medicine, Gürses, Rabia Candan (ORCID 0000-0002-3752-1825 & YÖK ID 110149), Karapınar, Edanur; Yunusoğlu, Ceren; Tekin, Betül; Dede, Hava Özlem; Bebek, Nerses; Baykan, Betül, and School of Medicine

Abstract

Introduction: we aimed to identify sleep disorders in patients with epilepsy and compare this group with a healthy population. We also analyzed the features of sleep disorders in patients with epilepsy to demonstrate the effect of seizures and seizure types on sleep. Methods: our study assessed 43 patients with epilepsy and 53 age- and gender-matched healthy controls. The demographic and clinical data of all participants were recorded. The Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index (PSQI), International Restless Legs Syndrome Study Group Rating Scale, Berlin Questionnaire, and Beck Depression Inventory (BDI) were administered to all study subjects. The interview used to evaluate insomnia is based on the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition - DSM-5 diagnostic criteria. Results: twenty-four patients (55.8%) and 26 controls (49.1%) are women. The mean age of patients and controls was 34.2 +/- 11.37 (16-71) and 34.6 +/- 11.28 (16-77), respectively. Patients with epilepsy had depression more often than controls, a result that was statistically significant (p<0.0001). We found no statistically significant difference between sleep parameters of patients and controls with normal BDI scores (p>0.05). Patients with depression had worse results on the Berlin Questionnaire and PSQI total score, with statistical significance (p=0.002). Nocturnal seizures, seizure type, and drug treatment had no effect on sleep (p>0.05). Conclusion: we concluded that depression rather than epilepsy negatively affects sleep, suggesting that all patients should be asked about their mood and sleep complaints., NA

Published
2020

116. Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12-q12 in 14 Families

Author

Weber, Yvonne G., Berger, Andrea, Bebek, Nerses, Maier, Sabine, Karafyllakes, Skevos, Meyer, Nancy, Fukuyama, Yukio, Halbach, Anne, Hikel, Christiane, Kurlemann, Gerhard, Neubauer, Bernd, Osawa, Makiko, Püst, Burkhard, Rating, Dietz, Saito, Kayoko, Stephani, Ulrich, Tauer, Ulrike, Lehmann-Horn, Frank, Jurkat-Rott, Karin, and Lerche, Holger

Published
2004

119. The psychocognitive, biochemical, and electrophysiological effects of cerebral ischemia-reperfusion injury in patients undergoing carotid endarterectomy accompanied by cervical block.

Author

Arslanoğlu, Ergin, Kara, Kenan Abdurrahman, Bakhshaliyev, Shiraslan, Altunyuva, Kaan, Sarılar, Çağla Canbay, Yılmaz, Vuslat, Şirin, Görkem, Bebek, Nerses, and Alpagut, İbrahim Ufuk

Subjects
ELECTROENCEPHALOGRAPHY, CAROTID artery, ISCHEMIA, ENDARTERECTOMY, STENOSIS
Abstract

Objectives: This study aims to examine perioperative changes and correlation of electroencephalography (EEG), neuropsychological test (NPT), and neurobiochemical markers in patients undergoing carotid endarterectomy. Patients and methods: A total of 48 patients (28 males, 20 females; mean age: 68.4±7.7 years; range, 43 to 84 years) who underwent carotid endarterectomy in our clinic between January 2017 and March 2019 were included in the study. Basic activity, slow-wave, and paroxysmal activities were evaluated using the pre- and postoperative EEG. The S100B protein (S100B), neuron-specific enolase (NSE), and glial fibrillary acidic protein (GFAP) values from biochemical markers were studied in all patients in the preoperative period, postoperative early period (Day 2), and postoperative late period. The NPT was examined preoperatively and at one month postoperatively. Results: The EEG examination of 30 patients revealed a decrease in the slow-wave frequency and amplitude in the EEG of 10 patients without ischemia in the preoperative magnetic resonance imaging examination. The S100B and GFAP values decreased and the NSE values increased statistically significantly in the late postoperative period, although there was no statistically significant difference between the NSE, S100B, and GFAP values in the early postoperative period before and after carotid endarterectomy operation. Conclusion: The positive effects of carotid endarterectomy on EEG in the patient group without ischemia can be interpreted as the electrophysiological evidence and that possible functional damage associated with carotid stenosis can be improved after endarterectomy. The values of biochemical markers decreased in the late postoperative period with the limitation of inflammation and NSE increased, which may be associated with neuronal regeneration. [ABSTRACT FROM AUTHOR]

Published
2021
Full Text
View/download PDF

128. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L., Dhindsa, Ryan S., Stanley, Kate E., Cavalleri, Gianpiero L., Hakonarson, Hakon, Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Cossette, Patrick, Cotsapas, Chris, Jonghe, Peter De, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G., Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M., Bellows, Susannah T., Leu, Costin, Bennett, Caitlin A., Johns, Esther M. C., Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M., Sadoway, Tara R., Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, Baalen, Andreas Van, Spiczak, Sarah Von, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F., Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J., Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H. T., Barišić, Nina, Delanty, Norman, Doherty, Colin P., Shukralla, Arif, McCormack, Mark, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G., King, Chontelle, Mountier, Emily, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Yis, Uluc, Topaloglu, Pınar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L., Ellis, Colin A., Spalletta, Gianfranco, Piras, Fabrizio, Piras, Federica, Gili, Tommaso, Ciullo, Valentina, Reif, Andreas, McQuillin, Andrew, Bass, Nick, McIntosh, Andrew, Blackwood, Douglas, Johnstone, Mandy, Palotie, Aarno, Pato, Michele T., Pato, Carlos N., Bromet, Evelyn J., Carvalho, Celia Barreto, Achtyes, Eric D., Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S., Malaspina, Dolores, Marder, Stephen R., Medeiros, Helena, Morley, Christopher P., Perkins, Diana O., Sobell, Janet L., Buckley, Peter F., Macciardi, Fabio, Rapaport, Mark H., Knowles, James A., Fanous, Ayman H., McCarroll, Steven A., Gupta, Namrata, Gabriel, Stacey B., Daly, Mark J., Lander, Eric S., Lowenstein, Daniel H., Goldstein, David B., Lerche, Holger, Berkovic, Samuel F., Neale, Benjamin M., Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L., Dhindsa, Ryan S., Stanley, Kate E., Cavalleri, Gianpiero L., Hakonarson, Hakon, Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Cossette, Patrick, Cotsapas, Chris, Jonghe, Peter De, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G., Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M., Bellows, Susannah T., Leu, Costin, Bennett, Caitlin A., Johns, Esther M. C., Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M., Sadoway, Tara R., Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, Baalen, Andreas Van, Spiczak, Sarah Von, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F., Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J., Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H. T., Barišić, Nina, Delanty, Norman, Doherty, Colin P., Shukralla, Arif, McCormack, Mark, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G., King, Chontelle, Mountier, Emily, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Yis, Uluc, Topaloglu, Pınar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L., Ellis, Colin A., Spalletta, Gianfranco, Piras, Fabrizio, Piras, Federica, Gili, Tommaso, Ciullo, Valentina, Reif, Andreas, McQuillin, Andrew, Bass, Nick, McIntosh, Andrew, Blackwood, Douglas, Johnstone, Mandy, Palotie, Aarno, Pato, Michele T., Pato, Carlos N., Bromet, Evelyn J., Carvalho, Celia Barreto, Achtyes, Eric D., Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S., Malaspina, Dolores, Marder, Stephen R., Medeiros, Helena, Morley, Christopher P., Perkins, Diana O., Sobell, Janet L., Buckley, Peter F., Macciardi, Fabio, Rapaport, Mark H., Knowles, James A., Fanous, Ayman H., McCarroll, Steven A., Gupta, Namrata, Gabriel, Stacey B., Daly, Mark J., Lander, Eric S., Lowenstein, Daniel H., Goldstein, David B., Lerche, Holger, Berkovic, Samuel F., and Neale, Benjamin M.

Abstract

Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To identify the shared and distinct ultra-rare genetic risk factors for different types of epilepsies, we performed a whole-exome sequencing (WES) analysis of 9,170 epilepsy-affected individuals and 8,436 controls of European ancestry. We focused on three phenotypic groups: severe developmental and epileptic encephalopathies (DEEs), genetic generalized epilepsy (GGE), and non-acquired focal epilepsy (NAFE). We observed that compared to controls, individuals with any type of epilepsy carried an excess of ultra-rare, deleterious variants in constrained genes and in genes previously associated with epilepsy; we saw the strongest enrichment in individuals with DEEs and the least strong in individuals with NAFE. Moreover, we found that inhibitory GABAA receptor genes were enriched for missense variants across all three classes of epilepsy, whereas no enrichment was seen in excitatory receptor genes. The larger gene groups for the GABAergic pathway or cation channels also showed a significant mutational burden in DEEs and GGE. Although no single gene surpassed exome-wide significance among individuals with GGE or NAFE, highly constrained genes and genes encoding ion channels were among the lead associations; such genes included CACNA1G, EEF1A2, and GABRG2 for GGE and LGI1, TRIM3, and GABRG2 for NAFE. Our study, the largest epilepsy WES study to date, confirms a convergence in the genetics of severe and less-severe epilepsies associated with ultra-rare coding variation, and it highlights a ubiquitous role for GABAergic inhibition in epilepsy etiology.

Published
2019

129. Delta Brush Pattern Is Not Unique To Nmdar Encephalitis: Evaluation Of Two Independent Long-Term Eeg Cohorts

Author

Baykan, Betul, Tuncer, Ozlem Gungor, Vanli-Yavuz, Ebru Nur, Kirac, Leyla Baysal, Gundogdu, Gokcen, Bebek, Nerses, Gurses, Candan, Altindag, Ebru, and Tuzun, Erdem

Abstract

Purpose. Although its specificity has not previously been investigated in other cohorts, delta brush pattern (DBP) is increasingly reported in the EEGs of patients with anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis. Methods. We aimed to investigate the DBP in the EEGs of 2 cohorts; patients with change in consciousness for various causes monitored in the intensive care unit (ICU) (n = 106) and patients with mesial temporal lobe epilepsy (MTLE) with or without antineuronal antibodies (n = 76). Results. These patients were investigated for the presence of DBP, defined as an EEG pattern characterized by delta activity at 1 to 3 Hz with superimposed bursts of rhythmic 12- to 30-Hz activity. Two investigators blindfolded for the clinical and immunological data independently analyzed the EEGs for recognition of this pattern. An EEG picture compatible with DBP was observed in 4 patients; only 1 of them (1.3%) belonged to the MTLE group. She did not bear any of the investigated autoantibodies and was seizure-free after epilepsy surgery. In the ICU group, there were 3 additional patients showing DBP with various diagnoses such as hypoxic encephalopathy, brain tumor, stroke, and metabolic derangements. All of them had died in 1-month period. Conclusions. Our results underlined that DBP is not unique to NMDAR encephalitis; it may very rarely occur in MTLE with good prognosis after surgery and second, in ICU patients who have high mortality rate. Therefore, the presence of this pattern should alert the clinician for NMDAR encephalitis but other possible etiologies should not be ignored.

Published
2018

133. Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.

Author

Mazzola, Laure, Oliver, Karen L., Labalme, Audrey, Baykan, Betül, Muona, Mikko, Joensuu, Tarja H., Courage, Carolina, Chatron, Nicolas, Borsani, Giuseppe, Alix, Eudeline, Ramond, Francis, Touraine, Renaud, Bahlo, Melanie, Bebek, Nerses, Berkovic, Samuel F., Lehesjoki, Anna‐Elina, and Lesca, Gaetan

Subjects
REVERSE transcriptase polymerase chain reaction, MYOCLONUS, EPILEPSY
Abstract

Exome sequencing was performed in 2 unrelated families with progressive myoclonus epilepsy. Affected individuals from both families shared a rare, homozygous c.191A > G variant affecting a splice site in SLC7A6OS. Analysis of cDNA from lymphoblastoid cells demonstrated partial splice site abolition and the creation of an abnormal isoform. Quantitative reverse transcriptase polymerase chain reaction and Western blot showed a marked reduction of protein expression. Haplotype analysis identified a ~0.85cM shared genomic region on chromosome 16q encompassing the c.191A > G variant, consistent with a distant ancestor common to both families. Our results suggest that biallelic loss‐of‐function variants in SLC7A6OS are a novel genetic cause of progressive myoclonus epilepsy. ANN NEUROL 2021;89:402–407 [ABSTRACT FROM AUTHOR]

Published
2021
Full Text
View/download PDF

134. Transient Imaging Findings Related to Status Epilepticus.

Author

İLGEN USLU, Ferda and BEBEK, Nerses

Subjects
*ULTRASONIC encephalography, *STATUS epilepticus diagnosis, *STATUS epilepticus, *ACQUISITION of data methodology, *RETROSPECTIVE studies, *MAGNETIC resonance imaging, *MEDICAL records, *DESCRIPTIVE statistics, *SEIZURES (Medicine), *SPASMS
Abstract

Objectives: We aim to draw attention to transient imaging findings related to epileptic seizures, which is a rare condition that is often overlooked and may even lead to misdiagnosis. Methods: Records of 106 patients with seizures were reviewed and patients with transient magnetic resonance imaging (MRI) findings were detected. Seizure type and transient imaging findings (TIF) features were analyzed retrospectively. Results: Status epilepticus (SE) was found in 45 of the 106 patients who had epileptic seizures, and 9 of them had TIF. The average age of the patients was 52.9 years (28-78). The first seizure was a SE in eight (89%) patients. Three (33.3%) had a focal SE, four (44.4%) had a generalized tonic-clonic SE, whereas two (22.2%) evolved from a focal seizure to a bilateral tonic-clonic seizure. All patients with focal features had a seizure semiology that was compatible with the TIF side. In cranial MRI, cortical changes were detected in six, thalamic changes in one, cortical and thalamic changes in one, and leptomeningeal enhancements in one patient. These changes returned to normal in all patients within two weeks. Two patients died due to non-SE causes, whereas other patients resumed their daily routines. Conclusion: MRI findings after SE are rare but if detected, are an important indicator with localization and lateralization values, contributing to the semiological findings and localization. It is often confused with conditions that are its differential diagnosis. Knowing the MRI changes associated with SE is important to avoid misdiagnosis, understand its pathophysiology, and determine the prognosis. [ABSTRACT FROM AUTHOR]

Published
2021
Full Text
View/download PDF

135. Reflex Triggering Properties in Genetic Generalized and Focal Epilepsies by Questioning and Neuropsychological Electroencephalography Activation Methods.

Author

UR ÖZÇELİK, Emel, ATAKLI, Dilek, GÖRKEM ŞİRİN, Nermin, KÖKSAL, Ayhan, BEBEK, Nerses, and BAYKAN, Betül

Subjects
DIAGNOSIS of epilepsy, GENETICS of epilepsy, GENETICS, ELECTROENCEPHALOGRAPHY, EPILEPSY, REFLEXES, DRUG resistance, NEUROPSYCHOLOGICAL tests, SURVEYS, COMPARATIVE studies, DESCRIPTIVE statistics, HYPERVENTILATION, QUESTIONNAIRES, SEIZURES (Medicine), SPASMS, FATIGUE (Physiology), PSYCHOLOGICAL stress
Abstract

Copyright of Archives of Epilepsy is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2021
Full Text
View/download PDF

136. Clobazam as an Add-on Therapy of Patients with Drug-resistant Epilepsy: Experience of a Tertiary Epilepsy Center.

Author

ŞİRİN, Nermin Görkem, BAYKAN, Betül, and BEBEK, Nerses

Subjects
CLOBAZAM, SEIZURES (Medicine), DRUG resistance, DRUG efficacy, EPILEPSY, SPASMS, TREATMENT effectiveness, RETROSPECTIVE studies, TERTIARY care
Abstract

Copyright of Epilepsi: Journal of the Turkish Epilepsi Society is the property of KARE Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2020
Full Text
View/download PDF

137. COVID-19 ve Epilepsi: Nöbetlere, Tedaviye ve Sosyal Yaşama Etkileri.

Author

ELMALI, Ayşe Deniz, BEBEK, Nerses, YILDIRIM, İrem, AYTA, Semih, ALTINDAĞ, Ebru, ASLAN, Kezban, VELİOĞLU, Sibel K., and YENİ, Seher Naz

Subjects
CONVULSIONS -- Risk factors, RISK factors of spasms, ANTICONVULSANTS, EPILEPSY, RISK assessment, TELEMEDICINE, COVID-19
Abstract

Copyright of Epilepsi: Journal of the Turkish Epilepsi Society is the property of KARE Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2020
Full Text
View/download PDF

140. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group) [research center], University of Luxembourg: High Performance Computing - ULHPC [research center], May, Patrick, Girard, Simon, Harrer, Merle, Bobbili, Dheeraj Reddy, Schubert, Julian, Wolking, Stefan, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Christina E., Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-López, Rosa, Baulac, Stéphanie, Marini, Carla, Thiele, Holger, Altmüller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestèle, Sandrine, Terragni, Benedetta, Coombs, Ian D., Reid, Christopher A., Striano, Pasquale, Caglayan, Hande, Siren, Auli, Everett, Kate, Møller, Rikke S., Hjalgrim, Hille, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S., Weber, Yvonne G., De Jonghe, Peter, Sisodiya, Sanjay M., Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S., Kasteleijn-Nolst Trenité, Dorothée, Baykan, Betul, Ozbek, Ugur, Bebek, Nerses, Klein, Karl M., Rosenow, Felix, Nguyen, Dang K., Dubeau, Francis, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clément, Jean-François, Cieuta-Walti, Sills, Graeme J., Auce, Pauls, Francin, Ben, Johnson, Michael R., Berghuis, Bianca, Sander, Josemir W., Avbersek, Andreja, McCormack, Mark, Cavalleri, Gianpiero L., Delanty, Norman, Depondt, Chantal, Krenn, Martin, Zimprich, Fritz, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi, Ikram, M. Arfan, Uitterlinden, André G., Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven, Mantegazza, Massimo, Sander, Thomas, LeGuern, Eric, Serratosa Jose M., Koeleman, Bobby P.C., Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael, Nürnberg, Peter, Maljevic, Snezana, Zara, Federico, Cossette, Patrick, Krause, Roland, Lerche, Holger, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Luxembourg Centre for Systems Biomedicine (LCSB): Experimental Neurobiology (Balling Group) [research center], University of Luxembourg: High Performance Computing - ULHPC [research center], May, Patrick, Girard, Simon, Harrer, Merle, Bobbili, Dheeraj Reddy, Schubert, Julian, Wolking, Stefan, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Christina E., Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-López, Rosa, Baulac, Stéphanie, Marini, Carla, Thiele, Holger, Altmüller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestèle, Sandrine, Terragni, Benedetta, Coombs, Ian D., Reid, Christopher A., Striano, Pasquale, Caglayan, Hande, Siren, Auli, Everett, Kate, Møller, Rikke S., Hjalgrim, Hille, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S., Weber, Yvonne G., De Jonghe, Peter, Sisodiya, Sanjay M., Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S., Kasteleijn-Nolst Trenité, Dorothée, Baykan, Betul, Ozbek, Ugur, Bebek, Nerses, Klein, Karl M., Rosenow, Felix, Nguyen, Dang K., Dubeau, Francis, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clément, Jean-François, Cieuta-Walti, Sills, Graeme J., Auce, Pauls, Francin, Ben, Johnson, Michael R., Berghuis, Bianca, Sander, Josemir W., Avbersek, Andreja, McCormack, Mark, Cavalleri, Gianpiero L., Delanty, Norman, Depondt, Chantal, Krenn, Martin, Zimprich, Fritz, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi, Ikram, M. Arfan, Uitterlinden, André G., Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven, Mantegazza, Massimo, Sander, Thomas, LeGuern, Eric, Serratosa Jose M., Koeleman, Bobby P.C., Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael, Nürnberg, Peter, Maljevic, Snezana, Zara, Federico, Cossette, Patrick, Krause, Roland, and Lerche, Holger

Abstract

Background Genetic generalised epilepsy is the most common type of inherited epilepsy. Despite a high concordance rate of 80% in monozygotic twins, the genetic background is still poorly understood. We aimed to investigate the burden of rare genetic variants in genetic generalised epilepsy. Methods For this exome-based case-control study, we used three different genetic generalised epilepsy case cohorts and three independent control cohorts, all of European descent. Cases included in the study were clinically evaluated for genetic generalised epilepsy. Whole-exome sequencing was done for the discovery case cohort, a validation case cohort, and two independent control cohorts. The replication case cohort underwent targeted next-generation sequencing of the 19 known genes encoding subunits of GABAA receptors and was compared to the respective GABAA receptor variants of a third independent control cohort. Functional investigations were done with automated two-microelectrode voltage clamping in Xenopus laevis oocytes. Findings Statistical comparison of 152 familial index cases with genetic generalised epilepsy in the discovery cohort to 549 ethnically matched controls suggested an enrichment of rare missense (Nonsyn) variants in the ensemble of 19 genes encoding GABAA receptors in cases (odds ratio [OR] 2·40 [95% CI 1·41–4·10]; pNonsyn=0·0014, adjusted pNonsyn=0·019). Enrichment for these genes was validated in a whole-exome sequencing cohort of 357 sporadic and familial genetic generalised epilepsy cases and 1485 independent controls (OR 1·46 [95% CI 1·05–2·03]; pNonsyn=0·0081, adjusted pNonsyn=0·016). Comparison of genes encoding GABAA receptors in the independent replication cohort of 583 familial and sporadic genetic generalised epilepsy index cases, based on candidate-gene panel sequencing, with a third independent control cohort of 635 controls confirmed the overall enrichment of rare missense variants for 15 GABAA receptor genes in cases compared with controls (O

Published
2018

146. The rare rs769301934 variant in NHLRC1is a common cause of Lafora disease in Turkey

Author

Haryanyan, Garen, Ozdemir, Ozkan, Tutkavul, Kemal, Dervent, Aysin, Ayta, Semih, Ozkara, Cigdem, Salman, Baris, Yucesan, Emrah, Kesim, Yesim, Susgun, Seda, Ozbek, Ugur, Baykan, Betul, Ugur Iseri, Sibel A., and Bebek, Nerses

Abstract

Lafora disease (LD) is a severe form of progressive myoclonus epilepsy inherited in an autosomal recessive fashion. It is associated with biallelic pathogenic variations in EPM2Aor NHLRC1, which encode laforin and malin, respectively. The disease usually starts with adolescent onset seizures followed by progressive dementia, refractory status epilepticus and eventually death within 10 years of onset. LD is generally accepted as having a homogenous clinical course with no considerable differences between EPM2Aor NHLRC1associated forms. Nevertheless, late-onset and slow progressing forms of the disease have also been reported. Herein, we have performed clinical and genetic analyses of 14 LD patients from 12 different families and identified 8 distinct biallelic variations in these patients. Five of these variations were novel and/or associated with the LD phenotype for the first time. Interestingly, almost half of the cases were homozygous for the rare rs769301934 (NM_198586.3(NHLRC1): c.436 G > A; p.(Asp146Asn)) allele in NHLRC1. A less severe phenotype with an onset at a later age may be the reason for the biased inflation of this variant, which is already present in the human gene pool and can hence arise in the homozygous form in populations with increased parental consanguinity.

Published
2021
Full Text
View/download PDF

147. Epilepsi Özyönetim Ölçeği Geçerlik ve Güvenirlik Çalışması.

Author

YENİ, Kübra, TÜLEK, Zeliha, and BEBEK, Nerses

Subjects
DIAGNOSIS of epilepsy, TREATMENT of epilepsy, ACADEMIC medical centers, STATISTICAL correlation, LINGUISTICS, QUALITY of life, RESEARCH evaluation, SELF-management (Psychology), STATISTICAL reliability, RESEARCH methodology evaluation
Abstract

Copyright of Epilepsi: Journal of the Turkish Epilepsi Society is the property of KARE Publishing and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2020
Full Text
View/download PDF

148. Susceptibility to Juvenile Myoclonic Epilepsy Associated with the EFHC1 Gene: First Case Report in Turkey.

Author

Şirinocak, Pınar Bekdik, Salman, Barış, Kesim, Fatma Yeşim, Bebek, Nerses, Baykan, Betül, and Uğur İşeri, Sibel Aylin

Subjects
GENETICS of disease susceptibility, SEIZURES (Medicine), ELECTROENCEPHALOGRAPHY, GENETIC polymorphisms, SPASMS, INFANTILE spasms, VALPROIC acid, TREATMENT effectiveness, SEQUENCE analysis, DISEASE risk factors
Abstract

Copyright of Turkish Journal of Neurology / Turk Noroloji Dergisi is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2019
Full Text
View/download PDF

149. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

Author

Steffens, Michael, Leu, Costin, Ruppert, Ann-Kathrin, Zara, Federico, Striano, Pasquale, Robbiano, Angela, Capovilla, Giuseppe, Tinuper, Paolo, Gambardella, Antonio, Bianchi, Amedeo, La Neve, Angela, Crichiutti, Giovanni, de Kovel, Carolien G.F., Kasteleijn-Nolst Trenité, Dorothée, de Haan, Gerrit-Jan, Lindhout, Dick, Gaus, Verena, Schmitz, Bettina, Janz, Dieter, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Steinhoff, Bernhard J., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Elger, Christian E., Muhle, Hiltrud, von Spiczak, Sarah, Ostertag, Philipp, Helbig, Ingo, Stephani, Ulrich, Møller, Rikke S., Hjalgrim, Helle, Dibbens, Leanne M., Bellows, Susannah, Oliver, Karen, Mullen, Saul, Scheffer, Ingrid E., Berkovic, Samuel F., Everett, Kate V., Gardiner, Mark R., Marini, Carla, Guerrini, Renzo, Lehesjoki, Anna-Elina, Siren, Auli, Guipponi, Michel, Malafosse, Alain, Thomas, Pierre, Nabbout, Rima, Baulac, Stephanie, Leguern, Eric, Guerrero, Rosa, Serratosa, Jose M., Reif, Philipp S., Rosenow, Felix, Mörzinger, Martina, Feucht, Martha, Zimprich, Fritz, Kapser, Claudia, Schankin, Christoph J., Suls, Arvid, Smets, Katrin, De Jonghe, Peter, Jordanova, Albena, Caglayan, Hande, Yapici, Zuhal, Yalcin, Destina A., Baykan, Betul, Bebek, Nerses, Ozbek, Ugur, Gieger, Christian, Wichmann, Heinz-Erich, Balschun, Tobias, Ellinghaus, David, Franke, Andre, Meesters, Christian, Becker, Tim, Wienker, Thomas F., Hempelmann, Anne, Schulz, Herbert, Rüschendorf, Franz, Leber, Markus, Pauck, Steffen M., Trucks, Holger, Toliat, Mohammad R., Nürnberg, Peter, Avanzini, Giuliano, Koeleman, Bobby P.C., Sander, Thomas, Steffens, Michael, Leu, Costin, Ruppert, Ann-Kathrin, Zara, Federico, Striano, Pasquale, Robbiano, Angela, Capovilla, Giuseppe, Tinuper, Paolo, Gambardella, Antonio, Bianchi, Amedeo, La Neve, Angela, Crichiutti, Giovanni, de Kovel, Carolien G.F., Kasteleijn-Nolst Trenité, Dorothée, de Haan, Gerrit-Jan, Lindhout, Dick, Gaus, Verena, Schmitz, Bettina, Janz, Dieter, Weber, Yvonne G., Becker, Felicitas, Lerche, Holger, Steinhoff, Bernhard J., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Elger, Christian E., Muhle, Hiltrud, von Spiczak, Sarah, Ostertag, Philipp, Helbig, Ingo, Stephani, Ulrich, Møller, Rikke S., Hjalgrim, Helle, Dibbens, Leanne M., Bellows, Susannah, Oliver, Karen, Mullen, Saul, Scheffer, Ingrid E., Berkovic, Samuel F., Everett, Kate V., Gardiner, Mark R., Marini, Carla, Guerrini, Renzo, Lehesjoki, Anna-Elina, Siren, Auli, Guipponi, Michel, Malafosse, Alain, Thomas, Pierre, Nabbout, Rima, Baulac, Stephanie, Leguern, Eric, Guerrero, Rosa, Serratosa, Jose M., Reif, Philipp S., Rosenow, Felix, Mörzinger, Martina, Feucht, Martha, Zimprich, Fritz, Kapser, Claudia, Schankin, Christoph J., Suls, Arvid, Smets, Katrin, De Jonghe, Peter, Jordanova, Albena, Caglayan, Hande, Yapici, Zuhal, Yalcin, Destina A., Baykan, Betul, Bebek, Nerses, Ozbek, Ugur, Gieger, Christian, Wichmann, Heinz-Erich, Balschun, Tobias, Ellinghaus, David, Franke, Andre, Meesters, Christian, Becker, Tim, Wienker, Thomas F., Hempelmann, Anne, Schulz, Herbert, Rüschendorf, Franz, Leber, Markus, Pauck, Steffen M., Trucks, Holger, Toliat, Mohammad R., Nürnberg, Peter, Avanzini, Giuliano, Koeleman, Bobby P.C., and Sander, Thomas

Abstract

Genetic generalized epilepsies (GGEs) have a lifetime prevalence of 0.3% and account for 20-30% of all epilepsies. Despite their high heritability of 80%, the genetic factors predisposing to GGEs remain elusive. To identify susceptibility variants shared across common GGE syndromes, we carried out a two-stage genome-wide association study (GWAS) including 3020 patients with GGEs and 3954 controls of European ancestry. To dissect out syndrome-related variants, we also explored two distinct GGE subgroups comprising 1434 patients with genetic absence epilepsies (GAEs) and 1134 patients with juvenile myoclonic epilepsy (JME). Joint Stage-1 and 2 analyses revealed genome-wide significant associations for GGEs at 2p16.1 (rs13026414, Pmeta = 2.5 × 10−9, OR[T] = 0.81) and 17q21.32 (rs72823592, Pmeta = 9.3 × 10−9, OR[A] = 0.77). The search for syndrome-related susceptibility alleles identified significant associations for GAEs at 2q22.3 (rs10496964, Pmeta = 9.1 × 10−9, OR[T] = 0.68) and at 1q43 for JME (rs12059546, Pmeta = 4.1 × 10−8, OR[G] = 1.42). Suggestive evidence for an association with GGEs was found in the region 2q24.3 (rs11890028, Pmeta = 4.0 × 10−6) nearby the SCN1A gene, which is currently the gene with the largest number of known epilepsy-related mutations. The associated regions harbor high-ranking candidate genes: CHRM3 at 1q43, VRK2 at 2p16.1, ZEB2 at 2q22.3, SCN1A at 2q24.3 and PNPO at 17q21.32. Further replication efforts are necessary to elucidate whether these positional candidate genes contribute to the heritability of the common GGE syndromes

Published
2017

150. Teratogenicity of antiepileptic drugs

Author

Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Guveli, Betul Tekin; Rosti, Rasim Ozgur; Guzeltas, Alper; Tuna, Elif Bahar; Atakli, Dilek; Sencer, Serra; Yekeler, Ensar; Dirican, Ahmet; Bebek, Nerses; Baykan, Betul; Gokyigit, Aysen; Gurses, Candan, School of Medicine, Department of Medical Genetics, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Guveli, Betul Tekin; Rosti, Rasim Ozgur; Guzeltas, Alper; Tuna, Elif Bahar; Atakli, Dilek; Sencer, Serra; Yekeler, Ensar; Dirican, Ahmet; Bebek, Nerses; Baykan, Betul; Gokyigit, Aysen; Gurses, Candan, School of Medicine, and Department of Medical Genetics

Abstract

Objective: Antiepileptic drugs (AED) have chronic teratogenic effects, the most common of which are congenital heart disease, cleft lip/palate, urogenital and neural tube defects. The aim of our study is to examine teratogenic effects of AED and the correlation between these malformations and AED in single or multiple pregnancies. Methods: This is a retrospective study of malformations in children born to mothers currently followed up by our outpatient clinics who used or discontinued AED during their pregnancy. Their children were then investigated using echocardiography, urinary ultrasound, cranial magnetic resonance image, and examined by geneticists and pediatric dentists. Results: One hundred and seventeen children were included in the study. Ninety one of these children were exposed to AED during pregnancy. The most commonly used AED were valproic acid and carbamazepine in monotherapy. The percentage of major anomaly was 6.8% in all children. Dysmorphic features and dental anomalies were observed more in children exposed especially to valproic acid. There were 26 mothers with two and four mothers with three pregnancies from the same fathers. No correlation was found between the distribution of malformations in recurring pregnancies and AED usage. Conclusion: Our study has the highest number of dysmorphism examined in literature, found in all the children exposed to valproic acid, which may account for the higher rate of facial dysmorphism and dental anomalies. On lower doses of valproic acid, major malformations are not seen, although the risk increases with polytherapy. Our data also indicate possible effects of genetic and environmental factors on malformations., Research Fund of Istanbul University

Published
2017

Catalog

Books, media, physical & digital resources
See catalog results