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The contribution of next generation sequencing to epilepsy genetics

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Gleice Kelli Silva-Cardoso & Prosper N’Gouemo. (2023) Seizure-suppressor genes: can they help spearhead the discovery of novel therapeutic targets for epilepsy?. Expert Opinion on Therapeutic Targets 27:8, pages 657-664.
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Maria Mazurkiewicz-Bełdzińska, Mireia del Toro, Göknur Haliloğlu, Hidde H. Huidekoper, Ružica Kravljanac, Chris Mühlhausen, Brian Nauheimer Andersen, Igor Prpić, Pasquale Striano & Stéphane Auvin. (2021) Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies. Expert Review of Neurotherapeutics 21:11, pages 1275-1282.
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Mariagrazia Esposito, Ilaria Lagorio, Diego Peroni, Alice Bonuccelli, Alessandro Orsini & Pasquale Striano. (2020) Genomic sequencing in severe epilepsy: a step closer to precision medicine. Expert Review of Precision Medicine and Drug Development 5:2, pages 101-108.
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Marcello Scala, Amedeo Bianchi, Francesca Bisulli, Antonietta Coppola, Maurizio Elia, Marina Trivisano, Dario Pruna, Tommaso Pippucci, Laura Canafoglia, Simona Lattanzi, Silvana Franceschetti, Carlo Nobile, Antonio Gambardella, Roberto Michelucci, Federico Zara & Pasquale Striano. (2020) Advances in genetic testing and optimization of clinical management in children and adults with epilepsy. Expert Review of Neurotherapeutics 20:3, pages 251-269.
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Rikke S. Møller, Trine B. Hammer, Guido Rubboli, Johannes R. Lemke & Katrine M. Johannesen. (2019) From next-generation sequencing to targeted treatment of non-acquired epilepsies. Expert Review of Molecular Diagnostics 19:3, pages 217-228.
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Jeffrey D. Calhoun & Gemma L. Carvill. (2018) Unravelling the genetic architecture of autosomal recessive epilepsy in the genomic era. Journal of Neurogenetics 32:4, pages 295-312.
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Alberto Verrotti, Federico Zara, Carlo Minetti & Pasquale Striano. (2016) Novel treatment perspectives from advances in understanding of genetic epilepsy syndromes. Expert Opinion on Orphan Drugs 4:5, pages 485-490.
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Articles from other publishers (49)

Maximilian G. W. Witzel, Christian Gebhard, Sören Wenzel, Saskia Kleier, Birgit Eichhorn, Peter Lorenz, Laura von der Heyden, Marius Kuhn, Manuel Luedeke, Miriam Döcker, Jerome Jüngling, Björn Schulte, Konstanze Hörtnagel, Ralf Glaubitz, Sarah Knippenberger, Anna Teubert, Angela Abicht & Teresa M. Neuhann. (2023) Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories. Frontiers in Neurology 14.
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Sulaiman Almohaish, Aaron M. Cook, Gretchen M. Brophy & Denise H. Rhoney. (2023) Personalized antiseizure medication therapy in critically ill adult patients. Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy 43:11, pages 1166-1181.
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Ayla Arslan. (2023) Pathogenic variants of human GABRA1 gene associated with epilepsy: A computational approach. Heliyon, pages e20218.
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T. V. Kozhanova. (2023) Opportunities and achievements of using massive parallel sequencing in the diagnosis of neurodevelopmental diseases. Epilepsy and paroxysmal conditions 15:1, pages 44-52.
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Florian P. Fischer, Robin A. Karge, Yvonne G. Weber, Henner Koch, Stefan Wolking & Aaron Voigt. (2023) Drosophila melanogaster as a versatile model organism to study genetic epilepsies: An overview. Frontiers in Molecular Neuroscience 16.
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Ameya S. Kasture, Florian P. Fischer, Lisa Kunert, Melanie L. Burger, Alexander C. Burgstaller, Ali El-Kasaby, Thomas Hummel & Sonja Sucic. (2023) Drosophila melanogaster as a model for unraveling unique molecular features of epilepsy elicited by human GABA transporter 1 variants. Frontiers in Neuroscience 16.
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Li-Ying Liu, Qian Lu, Qiu-Hong Wang, Yang-Yang Wang, Bo Zhang & Li-Ping Zou. (2022) Diagnostic yield of a multi-strategy genetic testing procedure in a nationwide cohort of 728 patients with infantile spasms in China. Seizure: European Journal of Epilepsy 103, pages 51-57.
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Liborio Parrino, Peter Halasz, Anna Szucs, Robert J. Thomas, Nicoletta Azzi, Francesco Rausa, Silvia Pizzarotti, Alessandro Zilioli, Francesco Misirocchi & Carlotta Mutti. (2022) Sleep medicine: Practice, challenges and new frontiers. Frontiers in Neurology 13.
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Armaghan Alam, Maksim Parfyonov, Camille Y. Huang, Inderpal Gill, Mary B. Connolly & Judy Illes. (2022) Targeted Whole Exome Sequencing in Children With Early-Onset Epilepsy: Parent Experiences. Journal of Child Neurology 37:10-11, pages 840-850.
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Meret Wegler, Xiangbin Jia, Marielle Alders, Arjan Bouman, Jia Chen, Xinyu Duan, Julie L. Lauzon, Inge B. Mathijssen, Heinrich Sticht, Steffen Syrbe, Senwei Tan, Hui Guo & Rami Abou Jamra. (2022) De novo variants in the PABP domain of PABPC1 lead to developmental delay. Genetics in Medicine 24:8, pages 1761-1773.
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Dana Marafi, Jawid M Fatih, Rauan Kaiyrzhanov, Matteo P Ferla, Charul Gijavanekar, Aljazi Al-Maraghi, Ning Liu, Emily Sites, Hessa S Alsaif, Mohammad Al-Owain, Mohamed Zakkariah, Ehab El-Anany, Ulviyya Guliyeva, Sughra Guliyeva, Colette Gaba, Ateeq Haseeb, Amal M Alhashem, Enam Danish, Vasiliki Karageorgou, Christian Beetz, Alaa A Subhi, Sureni V Mullegama, Erin Torti, Monisha Sebastin, Margo Sheck Breilyn, Susan Duberstein, Mohamed S Abdel-Hamid, Tadahiro Mitani, Haowei Du, Jill A Rosenfeld, Shalini N Jhangiani, Zeynep Coban Akdemir, Richard A Gibbs, Jenny C Taylor, Khalid A Fakhro, Jill V Hunter, Davut Pehlivan, Maha S Zaki, Joseph G Gleeson, Reza Maroofian, Henry Houlden, Jennifer E Posey, V Reid Sutton, Fowzan S Alkuraya, Sarah H Elsea & James R Lupski. (2022) Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy . Brain 145:3, pages 909-924.
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Jun Wang, Jie Zhang, Ying Yang, Kai Gao, Ye Wu, Yuehua Zhang & Yuwu Jiang. (2022) Efficacy of Ketogenic Diet for Infantile Spasms in Chinese Patients With or Without Monogenic Etiology. Frontiers in Pediatrics 10.
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Álvaro Beltrán-Corbellini, Ángel Aledo-Serrano, Rikke S. Møller, Eduardo Pérez-Palma, Irene García-Morales, Rafael Toledano & Antonio Gil-Nagel. (2022) Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies. Frontiers in Neurology 13.
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Péter Halász, Anna Szűcs, Carlotta Mutti & Liborio Parrino. (2022) Disorders of arousal and sleep-related hypermotor epilepsy — overview and challenges night is a battlefield of sleep and arousal promoting forces. Neurological Sciences 43:2, pages 927-937.
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Markus T. Sainio, Juho Aaltio, Virva Hyttinen, Mika Kortelainen, Simo Ojanen, Anders Paetau, Pentti Tienari, Emil Ylikallio, Mari Auranen & Henna Tyynismaa. (2021) Effectiveness of clinical exome sequencing in adult patients with difficult‐to‐diagnose neurological disorders. Acta Neurologica Scandinavica 145:1, pages 63-72.
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Laura C. Swanson & Raheel Ahmed. (2022) Epilepsy Syndromes: Current Classifications and Future Directions. Neurosurgery Clinics of North America 33:1, pages 113-134.
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Hye Eun Kwon & Heung Dong Kim. (2021) Recent aspects of ketogenic diet in neurological disorders. Acta Epileptologica 3:1.
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Wenjie Chen, Jiong Qin, Yiping Shen, Jingjing Liang, Yanan Cui & Ying Zhang. (2021) Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study. Brain and Development 43:10, pages 1004-1012.
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Tiejia Jiang, Jia Gao, Lihua Jiang, Lu Xu, Congying Zhao, Xiaojun Su, Yaping Shen, Weiyue Gu, Xiaohong Kong, Ying Yang & Feng Gao. (2021) Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy. Frontiers in Molecular Neuroscience 14.
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Pedro H.M. Magalhães, Helena T. Moraes, Maria C.P. Athie, Rodrigo Secolin & Iscia Lopes-Cendes. (2021) New avenues in molecular genetics for the diagnosis and application of therapeutics to the epilepsies. Epilepsy & Behavior 121, pages 106428.
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Luis A. Martinez, Yi-Chen Lai, J. Lloyd HolderJr.Jr. & Anne E. Anderson. (2021) Genetics in Epilepsy. Neurologic Clinics 39:3, pages 743-777.
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Nathan A. Shlobin, Gagandeep Singh, Charles R. Newton & Josemir W. Sander. (2021) Classifying epilepsy pragmatically: Past, present, and future. Journal of the Neurological Sciences 427, pages 117515.
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Behrouz Shademan, Cigir Biray Avci, Masoud Nikanfar & Alireza Nourazarian. (2020) Application of Next-Generation Sequencing in Neurodegenerative Diseases: Opportunities and Challenges. NeuroMolecular Medicine 23:2, pages 225-235.
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Esra Isik, Sanem Yilmaz, Tahir Atik, Gul Aktan, Huseyin Onay, Sarenur Gokben & Ferda Ozkinay. (2020) The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies. Neurological Sciences 41:12, pages 3729-3739.
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Jin-Bor Chen, Chiung-Chih Chang, Lung-Chih Li, Wen-Chin Lee, Chia-Ni Lin, Sung-Chou Li, Sin-Hua Moi & Cheng-Hong Yang. (2020) Mutual Interaction of Clinical Factors and Specific microRNAs to Predict Mild Cognitive Impairment in Patients Receiving Hemodialysis. Cells 9:10, pages 2303.
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Jiwon Lee, Chung Lee, Chang‐Seok Ki & Jeehun Lee. (2020) Determining the best candidates for next‐generation sequencing‐based gene panel for evaluation of early‐onset epilepsy. Molecular Genetics & Genomic Medicine 8:9.
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Pasquale Striano & Berge A. Minassian. (2020) From Genetic Testing to Precision Medicine in Epilepsy. Neurotherapeutics 17:2, pages 609-615.
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T. V. Kozhanova, S. S. Zhilina, T. I. Meshheryakova, K. V. Osipova, S. O. Ayvazyan & A. G. Prityko. (2020) Significance of exome sequencing for diagnosis of epilepsy in children. Epilepsy and paroxysmal conditions 11:4, pages 379-387.
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Malavika Hebbar & Heather C. Mefford. (2020) Recent advances in epilepsy genomics and genetic testing. F1000Research 9, pages 185.
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Johannes R. Lemke. (2019) Diagnostik genetisch bedingter Epilepsien. Medizinische Genetik 31:3, pages 303-312.
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Heather C. Mefford. (2019) The Road to Diagnosis: Shortening the Diagnostic Odyssey in Epilepsy. Epilepsy Currents 19:5, pages 307-309.
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Anna Lauritano, Sebastien Moutton, Elena Longobardi, Frédéric Tran Mau‐Them, Giusy Laudati, Piera Nappi, Maria Virginia Soldovieri, Paolo Ambrosino, Mauro Cataldi, Thibaud Jouan, Daphné Lehalle, Hélène Maurey, Christophe Philippe, Francesco Miceli, Antonio Vitobello & Maurizio Taglialatela. (2019) A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy. Epilepsia Open 4:3, pages 464-475.
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Katrine M. Johannesen, Elena Gardella, Alejandra C. Encinas, Anna‐Elina Lehesjoki, Tarja Linnankivi, Michael B. Petersen, Ida Charlotte Bay Lund, Susanne Blichfeldt, Maria J. Miranda, Deb K. Pal, Karine Lascelles, Peter Procopis, Alessandro Orsini, Alice Bonuccelli, Thea Giacomini, Ingo Helbig, Christina D. Fenger, Sanjay M. Sisodiya, Laura Hernandez‐Hernandez, Sundararaman Krithika, Melissa Rumple, Silvia Masnada, Marialuisa Valente, Cristina Cereda, Lucio Giordano, Patrizia Accorsi, Sarah E. Bürki, Margherita Mancardi, Christian Korff, Renzo Guerrini, Sarah Spiczak, Dorota Hoffman‐Zacharska, Tomasz Mazurczak, Antonietta Coppola, Salvatore Buono, Marilena Vecchi, Michael F. Hammer, Costanza Varesio, Pierangelo Veggiotti, Dennis Lal, Tobias Brünger, Federico Zara, Pasquale Striano, Guido Rubboli & Rikke S. Møller. (2019) The spectrum of intermediate SCN 8A ‐related epilepsy . Epilepsia 60:5, pages 830-844.
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Ara Ko, Da E. Jung, Se H. Kim, Hoon-Chul Kang, Joon S. Lee, Seung T. Lee, Jong R. Choi & Heung D. Kim. (2018) The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic Encephalopathy. Frontiers in Neurology 9.
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