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Select item 79061261.

Successful Treatment of Intractable Epilepsy with Ketogenic Diet Therapy in Twins with ALG3-CDG

C PAKETCI, P EDEM, S HIZ, E SONMEZLER, D SOYDEMIR, GS UZAN, Y OKTAY, E O’HEIR, S BELTRAN, S LAURIE, A TÖPF, H LOCHMULLER, R HORVATH, U YIS

Brain Dev. Author manuscript; available in PMC 2021 Aug 1.

Published in final edited form as: Brain Dev. 2020 Aug; 42(7): 539–545. Published online 2020 May 7. doi: 10.1016/j.braindev.2020.04.008

PMCID:: PMC7906126

Abstract Article PDF–818K

Select item 69048042.

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

Laura V. Vandervore, Rachel Schot, Chiara Milanese, Daphne J. Smits, Esmee Kasteleijn, Andrew E. Fry, Daniela T. Pilz, Stefanie Brock, Esra Börklü-Yücel, Marco Post, Nadia Bahi-Buisson, María José Sánchez-Soler, Marjon van Slegtenhorst, Boris Keren, Alexandra Afenjar, Stephanie A. Coury, Wen-Hann Tan, Renske Oegema, Linda S. de Vries, Katherine A. Fawcett, Peter G.J. Nikkels, Aida Bertoli-Avella, Amal Al Hashem, Abdulmalik A. Alwabel, Kalthoum Tlili-Graiess, Stephanie Efthymiou, Faisal Zafar, Nuzhat Rana, Farah Bibi, Henry Houlden, Reza Maroofian, Richard E. Person, Amy Crunk, Juliann M. Savatt, Lisbeth Turner, Mohammad Doosti, Ehsan Ghayoor Karimiani, Nebal Waill Saadi, Javad Akhondian, Maarten H. Lequin, Hülya Kayserili, Peter J. van der Spek, Anna C. Jansen, Johan M. Kros, Robert M. Verdijk, Nataša Jovanov Milošević, Maarten Fornerod, Pier Giorgio Mastroberardino, Grazia M.S. Mancini

Am J Hum Genet. 2019 Dec 5; 105(6): 1126–1147. Published online 2019 Nov 14. doi: 10.1016/j.ajhg.2019.10.009

PMCID:: PMC6904804

Abstract Article PDF–4.3M

Select item 70359633.

GRIN2D/GluN2D NMDA Receptor: Unique Features and Its Contribution to Pediatric Developmental and Epileptic Encephalopathy

Chad R. Camp, Hongjie Yuan

Eur J Paediatr Neurol. Author manuscript; available in PMC 2021 Jan 1.

Published in final edited form as: Eur J Paediatr Neurol. 2020 Jan; 24: 89–99. Published online 2019 Dec 18. doi: 10.1016/j.ejpn.2019.12.007

PMCID:: PMC7035963

Abstract Article PDF–738K

Select item 70359914.

Suppression of MEHMO syndrome mutation in eIF2 by small molecule ISRIB

Sara K. Young-Baird, Maíra Bertolessi Lourenço, Megan K. Elder, Eric Klann, Stefan Liebau, Thomas E. Dever

Mol Cell. Author manuscript; available in PMC 2021 Feb 20.

Published in final edited form as: Mol Cell. 2020 Feb 20; 77(4): 875–886.e7. Published online 2019 Dec 10. doi: 10.1016/j.molcel.2019.11.008

PMCID:: PMC7035991

Abstract Article PDF–2.1M

Select item 70980455.

CDKL5 Deficiency Disorder: Relationship between genotype, epilepsy, cortical visual impairment and development.

Scott T. Demarest, Heather E. Olson, Angela Moss, Elia Pestana-Knight, Xiaoming Zhang, Sumit Parikh, Lindsay C. Swanson, Katherine D. Riley, Grace A. Bazin, Katie Angione, Lisa-Marie Niestroj, Dennis Lal, Elizabeth Juarez-Colunga, Tim A. Benke

Epilepsia. Author manuscript; available in PMC 2020 Aug 1.

Published in final edited form as: Epilepsia. 2019 Aug; 60(8): 1733–1742. Published online 2019 Jul 16. doi: 10.1111/epi.16285

PMCID:: PMC7098045

Abstract Article PDF–399K

Select item 71393866.

Defects in Galactose Metabolism and Glycoconjugate Biosynthesis in a UDP-Glucose Pyrophosphorylase-Deficient Cell Line Are Reversed by Adding Galactose to the Growth Medium

Christelle Durrant, Jana I. Fuehring, Alexandra Willemetz, Dominique Chrétien, Giusy Sala, Riccardo Ghidoni, Abram Katz, Agnès Rötig, Monica Thelestam, Myriam Ermonval, Stuart E. H. Moore

Int J Mol Sci. 2020 Mar; 21(6): 2028. Published online 2020 Mar 16. doi: 10.3390/ijms21062028

PMCID:: PMC7139386

Abstract Article PDF–3.6M

Select item 72828747.

Genetic generalized and focal epilepsy prevalence in the North American SUDEP Registry

Chloe Verducci, Daniel Friedman, Elizabeth Donner, Orrin Devinsky

Neurology. 2020 Apr 21; 94(16): e1757–e1763. doi: 10.1212/WNL.0000000000009295

PMCID:: PMC7282874

Abstract Article PDF–174K

Select item 73395798.

Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

Elisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, Maria Stella Vari, Francesca Marchese, Veronica Di Pisa, Maria Margherita Mancardi, Thea Giacomini, Laura Siri, Fabiana Vercellino, Domenico Serino, Alessandro Orsini, Alice Bonuccelli, Irene Bagnasco, Amanda Papa, Carlo Minetti, Duccio Maria Cordelli, Pasquale Striano

Ital J Pediatr. 2020; 46: 92. Published online 2020 Jul 6. doi: 10.1186/s13052-020-00860-1

PMCID:: PMC7339579

Abstract Article PDF–1.2M

Select item 74777539.

Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course

Annika K. Wefers, Damian Stichel, Daniel Schrimpf, Roland Coras, Mélanie Pages, Arnault Tauziède-Espariat, Pascale Varlet, Daniel Schwarz, Figen Söylemezoglu, Ute Pohl, José Pimentel, Jochen Meyer, Ekkehard Hewer, Anna Japp, Abhijit Joshi, David E. Reuss, Annekathrin Reinhardt, Philipp Sievers, M. Belén Casalini, Azadeh Ebrahimi, Kristin Huang, Christian Koelsche, Hu Liang Low, Olinda Rebelo, Dina Marnoto, Albert J. Becker, Ori Staszewski, Michel Mittelbronn, Martin Hasselblatt, Jens Schittenhelm, Edmund Cheesman, Ricardo Santos de Oliveira, Rosane Gomes Queiroz, Elvis Terci Valera, Volkmar H. Hans, Andrey Korshunov, Adriana Olar, Keith L. Ligon, Stefan M. Pfister, Zane Jaunmuktane, Sebastian Brandner, Ruth G. Tatevossian, David W. Ellison, Thomas S. Jacques, Mrinalini Honavar, Eleonora Aronica, Maria Thom, Felix Sahm, Andreas von Deimling, David T.W. Jones, Ingmar Blumcke, David Capper

Acta Neuropathol. Author manuscript; available in PMC 2020 Sep 8.

Published in final edited form as: Acta Neuropathol. 2020 Jan; 139(1): 193–209. Published online 2019 Sep 28. doi: 10.1007/s00401-019-02078-w

PMCID:: PMC7477753

Abstract Article PDF–2.7M

Select item 771373710.

Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency

Melissa L. DiBacco, Ana Pop, Gajja S. Salomons, Ellen Hanson, Jean-Baptiste Roullet, K. Michael Gibson, Phillip L. Pearl

Neurology. 2020 Nov 10; 95(19): e2675–e2682. doi: 10.1212/WNL.0000000000010730

PMCID:: PMC7713737

Abstract Article PDF–336K

Select item 771375111.

Familial aggregation of status epilepticus in generalized and focal epilepsies

Judith L.Z. Weisenberg, Robert T. Fitzgerald, John N. Constantino, Melodie R. Winawer, Liu Lin Thio, for the EPGP Investigators

Neurology. 2020 Oct 13; 95(15): e2140–e2149. doi: 10.1212/WNL.0000000000010708

PMCID:: PMC7713751

Abstract Article PDF–689K

Select item 773473612.

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study

Simona Balestrini, Mohamad A. Mikati, Reyes Álvarez-García-Rovés, Michael Carboni, Arsen S. Hunanyan, Bassil Kherallah, Melissa McLean, Lyndsey Prange, Elisa De Grandis, Alessandra Gagliardi, Livia Pisciotta, Michela Stagnaro, Edvige Veneselli, Jaume Campistol, Carmen Fons, Leticia Pias-Peleteiro, Allison Brashear, Charlotte Miller, Raquel Samões, Vesna Brankovic, Quasar S. Padiath, Ana Potic, Jacek Pilch, Aikaterini Vezyroglou, Ann M.E. Bye, Andrew M. Davis, Monique M. Ryan, Christopher Semsarian, Georgina Hollingsworth, Ingrid E. Scheffer, Tiziana Granata, Nardo Nardocci, Francesca Ragona, Alexis Arzimanoglou, Eleni Panagiotakaki, Inês Carrilho, Claudio Zucca, Jan Novy, Karolina Dzieżyc, Marek Parowicz, Maria Mazurkiewicz-Bełdzińska, Sarah Weckhuysen, Roser Pons, Sergiu Groppa, Daniel S. Sinden, Geoffrey S. Pitt, Andrew Tinker, Michael Ashworth, Zuzanna Michalak, Maria Thom, J. Helen Cross, Rosaria Vavassori, Juan P. Kaski, Sanjay M. Sisodiya

Neurology. 2020 Nov 24; 95(21): e2866–e2879. doi: 10.1212/WNL.0000000000010794

PMCID:: PMC7734736

Abstract Article PDF–1.2M

Select item 786836113.

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Shereen G. Ghosh, Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang, Martin W. Breuss, Neda Mazaheri, Laila Selim, Fatemeh Hadipour, Lynn Pais, Chloe A. Stutterd, Vasiliki Karageorgou, Amber Begtrup, Amy Crunk, Jane Juusola, Rebecca Willaert, Leigh A. Flore, Kelly Kennelly, Christopher Spencer, Martha Brown, Pamela Trapane, Anna C. E. Hurst, S. Lane Rutledge, Dana H. Goodloe, Marie T. McDonald, Vandana Shashi, Kelly Schoch, Undiagnosed Diseases Network, Hoda Tomoum, Raghda Zaitoun, Zahra Hadipour, Hamid Galehdari, Alistair T. Pagnamenta, Majid Mojarrad, Alireza Sedaghat, Patrícia Dias, Sofia Quintas, Atiyeh Eslahi, Gholamreza Shariati, Peter Bauer, Cas Simons, Henry Houlden, Mahmoud Y. Issa, Maha S. Zaki, Reza Maroofian, Joseph G. Gleeson

Eur J Hum Genet. 2021 Feb; 29(2): 271–279. Published online 2020 Sep 8. doi: 10.1038/s41431-020-00717-5

PMCID:: PMC7868361

Abstract Article PDF–2.5M

Select item 658226314.

Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy

Alastair H. MacLennan, Sara Lewis, Andres Moreno-De-Luca, Michael Fahey, Richard J. Leventer, Sarah McIntyre, Hilla Ben-Pazi, Mark Corbett, Xiaoyang Wang, Gareth Baynam, Darcy Fehlings, Manju A. Kurian, Changlian Zhu, Kate Himmelmann, Hayley Smithers-Sheedy, Yana Wilson, Carlos Santos Ocaña, Clare van Eyk, Nadia Badawi, Richard F. Wintle, Bo Jacobsson, David J. Amor, Carina Mallard, Luis A. Pérez-Jurado, Mikko Hallman, Peter J. Rosenbaum, Michael C. Kruer, Jozef Gecz

J Child Neurol. 2019 Jul; 34(8): 472–476. Published online 2019 Apr 9. doi: 10.1177/0883073819840449

PMCID:: PMC6582263

Abstract Article PDF–199K

Select item 795109915.

KCNQ2‐DEE: developmental or epileptic encephalopathy?

Anne T. Berg, Sonal Mahida, Annapurna Poduri

Ann Clin Transl Neurol. 2021 Mar; 8(3): 666–676. Published online 2021 Feb 22. doi: 10.1002/acn3.51316

PMCID:: PMC7951099

Abstract Article PDF–955K

Select item 805937216.

Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Carolina Courage, Karen L. Oliver, Eon Joo Park, Jillian M. Cameron, Kariona A. Grabińska, Mikko Muona, Laura Canafoglia, Antonio Gambardella, Edith Said, Zaid Afawi, Betul Baykan, Christian Brandt, Carlo di Bonaventura, Hui Bein Chew, Chiara Criscuolo, Leanne M. Dibbens, Barbara Castellotti, Patrizia Riguzzi, Angelo Labate, Alessandro Filla, Anna T. Giallonardo, Geza Berecki, Christopher B. Jackson, Tarja Joensuu, John A. Damiano, Sara Kivity, Amos Korczyn, Aarno Palotie, Pasquale Striano, Davide Uccellini, Loretta Giuliano, Eva Andermann, Ingrid E. Scheffer, Roberto Michelucci, Melanie Bahlo, Silvana Franceschetti, William C. Sessa, Samuel F. Berkovic, Anna-Elina Lehesjoki

Am J Hum Genet. 2021 Apr 1; 108(4): 722–738. Published online 2021 Apr 1. doi: 10.1016/j.ajhg.2021.03.013

PMCID:: PMC8059372

Abstract Article PDF–1.6M

Select item 838343017.

Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain

Lindsay Liang, Siavash Fazel Darbandi, Sirisha Pochareddy, Forrest O. Gulden, Michael C. Gilson, Brooke K. Sheppard, Atehsa Sahagun, Joon-Yong An, Donna M. Werling, John L. R. Rubenstein, Nenad Sestan, Kevin J. Bender, Stephan J. Sanders

Genome Med. 2021; 13: 135. Published online 2021 Aug 23. doi: 10.1186/s13073-021-00949-0

PMCID:: PMC8383430

Abstract Article PDF–3.2M

Select item 849611018.

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 855732619.

Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants

Joseph D Symonds, Katherine S Elliott, Jay Shetty, Martin Armstrong, Andreas Brunklaus, Ioana Cutcutache, Louise A Diver, Liam Dorris, Sarah Gardiner, Alice Jollands, Shelagh Joss, Martin Kirkpatrick, Ailsa McLellan, Stewart MacLeod, Mary O’Regan, Matthew Page, Elizabeth Pilley, Daniela T Pilz, Elma Stephen, Kirsty Stewart, Houman Ashrafian, Julian C Knight, Sameer M Zuberi

Brain. 2021 Sep; 144(9): 2879–2891. Published online 2021 Oct 21. doi: 10.1093/brain/awab162

PMCID:: PMC8557326

Abstract Article PDF–594K

Select item 871984720.

Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study

Dongfang Zou, Lin Wang, Jianxiang Liao, Hongdou Xiao, Jing Duan, Tongda Zhang, Jianbiao Li, Zhenzhen Yin, Jing Zhou, Haisheng Yan, Yushan Huang, Nianji Zhan, Ying Yang, Jingyu Ye, Fang Chen, Shida Zhu, Feiqiu Wen, Jian Guo

Brain. 2021 Dec; 144(12): 3623–3634. Published online 2021 Jun 19. doi: 10.1093/brain/awab233