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Select item 113223781.

The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review

Mario Mastrangelo, Filippo Manti, Giacomina Ricciardi, Elisa Maria Colacino Cinnante, Noemi Cameli, Annachiara Beatrice, Manuela Tolve, Francesco Pisani

Eur J Pediatr. 2024; 183(9): 3665–3678. Published online 2024 Jul 2. doi: 10.1007/s00431-024-05657-6

PMCID:: PMC11322378

Abstract Article PDF–1.2M

Select item 106906842.

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan, Indar Kumar Sharawat, Kavita Srivastava, Nitish Vora, Rahul Badheka, Sumita Danda, Umesh Kalane, Anupriya Kaur, Priyanka Madaan, Sanjiv Mehta, Sandeep Negi, Prateek Kumar Panda, Surekha Rajadhyaksha, Arushi Gahlot Saini, Lokesh Saini, Siddharth Shah, Varunvenkat M. Srinivasan, Renu Suthar, Maya Thomas, Sameer Vyas, Naveen Sankhyan, Jitendra Kumar Sahu

Epilepsia Open. 2023 Dec; 8(4): 1383–1404. Published online 2023 Aug 25. doi: 10.1002/epi4.12811

PMCID:: PMC10690684

Abstract Article PDF–4.6M

Select item 99908233.

Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy

PURVI MAJETHIA, MICHELLE C DO ROSARIO, PARNEET KAUR, KARANVIR, RAAGUL SHANKAR, SUVASINI SHARMA, SHAHYAN SIDDIQUI, ANJU SHUKLA

Ann Hum Genet. Author manuscript; available in PMC 2023 Mar 7.

Published in final edited form as: Ann Hum Genet. 2022 Mar; 86(2): 94–101. Published online 2021 Dec 8. doi: 10.1111/ahg.12452

PMCID:: PMC9990823

Abstract Article PDF–1.0M

Select item 95871464.

Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies—a Study in a Tertiary Epilepsy Center

Allan Bayat, Christina D. Fenger, Tanya R. Techlo, Anne F. Højte, Ida Nørgaard, Thomas F. Hansen, Guido Rubboli, Rikke S. Møller, Danish Cytogenetic Central Registry study group

Neurotherapeutics. 2022 Jul; 19(4): 1353–1367. Published online 2022 Jun 20. doi: 10.1007/s13311-022-01264-1

PMCID:: PMC9587146

Abstract Article PDF–2.1M

Select item 90669175.

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center

Corina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, Iuliana Susnea, Bright D. Danquah, Galina Morales Torres, Maria Eugenia Rocha, Claudia Cozma, Deepa Saravanakumar, Sumanth Mannepalli, Krishna K. Kandaswamy, Sebastiano Di Bucchianico, Ralf Zimmermann, Arndt Rolfs, Peter Bauer, Christian Beetz

Orphanet J Rare Dis. 2022; 17: 179. Published online 2022 May 3. doi: 10.1186/s13023-022-02288-8

PMCID:: PMC9066917

Abstract Article PDF–1.2M

Select item 88557886.

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration

Neringa Jurkute, Costin Leu, Hans-Martin Pogoda, Gavin Arno, Anthony G. Robson, Gudrun Nürnberg, Janine Altmüller, Holger Thiele, Susanne Motameny, Mohammad Reza Toliat, Kate Powell, Wolfgang Höhne, Michel Michaelides, Andrew R Webster, Anthony T. Moore, Matthias Hammerschmidt, Peter Nürnberg, Patrick Yu-Wai-Man, Marcela Votruba

Ann Neurol. Author manuscript; available in PMC 2022 Feb 18.

Published in final edited form as: Ann Neurol. 2019 Sep; 86(3): 368–383. Published online 2019 Jul 31. doi: 10.1002/ana.25550

PMCID:: PMC8855788

Abstract Article PDF–1.9M

Select item 87387437.

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

Ange-Line Bruel, Antonio Vitobello, Isabelle Thiffault, Linda Manwaring, Marcia Willing, Pankaj B. Agrawal, Allan Bayat, Thomas M. Kitzler, Catherine A. Brownstein, Casie A. Genetti, Joseph Gonzalez-Heydrich, Parul Jayakar, Jacob W. Zyskind, Zehua Zhu, Clemence Vachet, Gena R. Wilson, Brianna Pruniski, Anne-Marie Goyette, Yannis Duffourd, Christel Thauvin-Robinet, Christophe Philippe, Laurence Faivre

Eur J Hum Genet. 2022 Jan; 30(1): 111–116. Published online 2021 Oct 28. doi: 10.1038/s41431-021-00985-9

PMCID:: PMC8738743

Abstract Article PDF–530K

Select item 84961108.

Boricua Founder Variant in FRRS1L Causes Epileptic Encephalopathy With Hyperkinetic Movements

Imane Abdelmoumen, Sandra Jimenez, Ignacio Valencia, Joseph Melvin, Agustin Legido, Mayela M. Diaz-Diaz, Christopher Griffith, Lauren J. Massingham, Melissa Yelton, Janice Rodríguez-Hernández, Rhonda E. Schnur, Laurence E. Walsh, Ana G. Cristancho, Christina A. Bergqvist, Kirsty McWalter, Iain Mathieson, Gillian M. Belbin, Eimear E. Kenny, Xilma R. Ortiz-Gonzalez, Michael C. Schneider

J Child Neurol. Author manuscript; available in PMC 2022 Feb 1.

Published in final edited form as: J Child Neurol. 2021 Feb; 36(2): 93–98. Published online 2020 Sep 15. doi: 10.1177/0883073820953001

PMCID:: PMC8496110

Abstract Article PDF–498K

Select item 84788419.

Gastrointestinal symptoms and channelopathy-associated epilepsy

Veronica C. Beck, Lori L. Isom, Anne T. Berg

J Pediatr. Author manuscript; available in PMC 2022 Oct 1.

Published in final edited form as: J Pediatr. 2021 Oct; 237: 41–49.e1. Published online 2021 Jun 26. doi: 10.1016/j.jpeds.2021.06.034

PMCID:: PMC8478841

Abstract Article PDF–640K

Select item 844757810.

Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder

Heather E. Olson, Carolyn I. Daniels, Isabel Haviland, Lindsay C. Swanson, Caitlin A. Greene, Anne Marie M. Denny, Scott T. Demarest, Elia Pestana-Knight, Xiaoming Zhang, Ahsan N. Moosa, Andrea Fidell, Judith L. Weisenberg, Bernhard Suter, Cary Fu, Jeffrey L. Neul, Alan K. Percy, Eric D. Marsh, Timothy A. Benke, Annapurna Poduri

J Neurodev Disord. 2021; 13: 40. Published online 2021 Sep 16. doi: 10.1186/s11689-021-09384-z

PMCID:: PMC8447578

Abstract Article PDF–601K

Select item 816797111.

A Chinese patient with developmental and epileptic encephalopathies (DEE) carrying a TRPM3 gene mutation: a paediatric case report

Qingyun Kang, Liming Yang, Hongmei Liao, Sai Yang, Xiaojun Kuang, Zeshu Ning, Caishi Liao, Bo Chen

BMC Pediatr. 2021; 21: 256. Published online 2021 Jun 1. doi: 10.1186/s12887-021-02719-8

PMCID:: PMC8167971

Abstract Article PDF–1.4M

Select item 785654412.

Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy

Andrés Moreno-De-Luca, Francisca Millan, Denis R. Pesacreta, Houda Z. Elloumi, Matthew T. Oetjens, Claire Teigen, Karen E. Wain, Julie Scuffins, Scott M. Myers, Rebecca I. Torene, Vladimir G. Gainullin, Kevin Arvai, H. Lester Kirchner, David H. Ledbetter, Kyle Retterer, Christa L. Martin

JAMA. 2021 Feb 2; 325(5): 467–475. Published online 2021 Feb 2. doi: 10.1001/jama.2020.26148

PMCID:: PMC7856544

Abstract Article

Select item 761589113.

Pediatric epilepsy surgery from 2000 to 2018: Changes in referral and surgical volumes, patient characteristics, genetic testing, and post-surgical outcomes

Maria H Eriksson, Kirstie J Whitaker, John Booth, Rory J Piper, Aswin Chari, Patricia Martin Sanfilippo, Ana Perez Caballero, Lara Menzies, Amy McTague, Sophie Adler, Konrad Wagstyl, Martin M Tisdall, J Helen Cross, Torsten Baldeweg

Epilepsia. Author manuscript; available in PMC 2024 Apr 25.

Published in final edited form as: Epilepsia. 2023 Sep 1; 64(9): 2260–2273. Published online 2023 Jul 21. doi: 10.1111/epi.17670

PMCID:: PMC7615891

Abstract Article PDF–1.1M

Select item 742316314.

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Rosemary Burgess, Shuyu Wang, Amy McTague, Katja E Boysen, Xiaoling Yang, Qi Zeng, Kenneth A Myers, Anne Rochtus, Marina Trivisano, Deepak Gill, EIMFS consortium, Lynette G Sadleir, Nicola Specchio, Renzo Guerrini, Carla Marini, Yue-Hua Zhang, Heather C Mefford, Manju A Kurian, Annapurna H Poduri, Ingrid E Scheffer

Ann Neurol. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Ann Neurol. 2019 Dec; 86(6): 821–831. doi: 10.1002/ana.25619

Correction in:: Ann Neurol. 2020 Apr; 87(4): 658.

PMCID:: PMC7423163

Abstract Article PDF–320K

Select item 732054415.

Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report

Sai Yang, Xiang Shen, Qingyun Kang, Xiaojun Kuang, Zeshu Ning, Shulei Liu, Hongmei Liao, Zhenhua Cao, Liming Yang

BMC Pediatr. 2020; 20: 315. Published online 2020 Jun 27. doi: 10.1186/s12887-020-02213-7

PMCID:: PMC7320544

Abstract Article PDF–1.2M

Select item 702543616.

Spectrum of K_V2.1 Dysfunction in KCNB1-associated Neurodevelopmental Disorders

Seok Kyu Kang, Carlos G. Vanoye, Sunita N. Misra, Dennis M. Echevarria, Jeffrey D. Calhoun, John B. O’Connor, Katarina L. Fabre, Dianalee McKnight, Laurie Demmer, Paula Goldenberg, Lauren E. Grote, Isabelle Thiffault, Carol Saunders, Kevin A. Strauss, Ali Torkamani, Jasper van der Smagt, Koen van Gassen, Robert P. Carson, Jullianne Diaz, Eyby Leon, Joseph E. Jacher, Mark C. Hannibal, Jessica Litwin, Neil R. Friedman, Allison Schreiber, Bryan Lynch, Annapurna Poduri, Eric D. Marsh, Ethan M. Goldberg, John J. Millichap, Alfred L. George, Jr., Jennifer A. Kearney

Ann Neurol. Author manuscript; available in PMC 2020 Dec 1.

Published in final edited form as: Ann Neurol. 2019 Dec; 86(6): 899–912. Published online 2019 Oct 24. doi: 10.1002/ana.25607

PMCID:: PMC7025436

Abstract Article PDF–3.3M

Select item 670914317.

Mapping the knowledge structure and trends of epilepsy genetics over the past decade: A co-word analysis based on medical subject headings terms

Jing Gan, Qianyun Cai, Peter Galer, Dan Ma, Xiaolu Chen, Jichong Huang, Shan Bao, Rong Luo

Medicine (Baltimore) 2019 Aug; 98(32): e16782. Published online 2019 Aug 9. doi: 10.1097/MD.0000000000016782

PMCID:: PMC6709143

Abstract Article PDF–1.1M

Select item 634034118.

Spectrum and time course of epilepsy and the associated cognitive decline in MECP2 duplication syndrome

Dana Marafi, Bernhard Suter, Rebecca Schultz, Daniel Glaze, Valory N. Pavlik, Alica M. Goldman

Neurology. 2019 Jan 8; 92(2): e108–e114. doi: 10.1212/WNL.0000000000006742

PMCID:: PMC6340341

Abstract Article PDF–162K

Select item 593275519.

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life

David Staněk, Petra Laššuthová, Katalin Štěrbová, Markéta Vlčková, Jana Neupauerová, Marcela Krůtová, Pavel Seeman

Orphanet J Rare Dis. 2018; 13: 71. Published online 2018 May 2. doi: 10.1186/s13023-018-0812-8

PMCID:: PMC5932755

Abstract Article PDF–954K

Select item 565605020.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Konrad Platzer, Hongjie Yuan, Hannah Schütz, Alexander Winschel, Wenjuan Chen, Chun Hu, Hirofumi Kusumoto, Henrike O Heyne, Katherine L Helbig, Sha Tang, Marcia C Willing, Brad T Tinkle, Darius J Adams, Christel Depienne, Boris Keren, Cyril Mignot, Eirik Frengen, Petter Strømme, Saskia Biskup, Dennis Döcker, Tim M Strom, Heather C Mefford, Candace T Myers, Alison M Muir, Amy LaCroix, Lynette Sadleir, Ingrid E Scheffer, Eva Brilstra, Mieke M van Haelst, Jasper J van der Smagt, Levinus A Bok, Rikke S Møller, Uffe B Jensen, John J Millichap, Anne T Berg, Ethan M Goldberg, Isabelle De Bie, Stephanie Fox, Philippe Major, Julie R Jones, Elaine H Zackai, Rami Abou Jamra, Arndt Rolfs, Richard J Leventer, John A Lawson, Tony Roscioli, Floor E Jansen, Emmanuelle Ranza, Christian M Korff, Anna-Elina Lehesjoki, Carolina Courage, Tarja Linnankivi, Douglas R Smith, Christine Stanley, Mark Mintz, Dianalee McKnight, Amy Decker, Wen-Hann Tan, Mark A Tarnopolsky, Lauren I Brady, Markus Wolff, Lutz Dondit, Helio F Pedro, Sarah E Parisotto, Kelly L Jones, Anup D Patel, David N Franz, Rena Vanzo, Elysa Marco, Judith D Ranells, Nataliya Di Donato, William B Dobyns, Bodo Laube, Stephen F Traynelis, Johannes R Lemke

J Med Genet. Author manuscript; available in PMC 2017 Oct 25.

Published in final edited form as: J Med Genet. 2017 Jul; 54(7): 460–470. Published online 2017 Apr 4. doi: 10.1136/jmedgenet-2016-104509

PMCID:: PMC5656050

Abstract Article PDF–580K

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