PMC Articles for MedGen (Select 765735) - PMC

Select item 77365291.

EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review

Chelsie N. Poffenberger, Sara Inati, Nahid Tayebi, Barbara Stubblefield, Emory Ryan, Raphael Schiffmann, Ellen Sidransky, Grisel Lopez

Mol Genet Metab. Author manuscript; available in PMC 2021 Nov 1.

Published in final edited form as: Mol Genet Metab. 2020 Nov; 131(3): 358–363. Published online 2020 Oct 20. doi: 10.1016/j.ymgme.2020.10.010

PMCID:: PMC7736529

Abstract Article PDF–349K

Select item 58564592.

High-Frequency Burst Vagal Nerve Simulation Therapy in a Natural Primate Model of Genetic Generalized Epilepsy

CÁ Szabó, FS Salinas, AM Papanastassiou, J Begnaud, M Ravan, KS Eggleston, R Shade, C Lutz, M De La Garza

Epilepsy Res. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Epilepsy Res. 2017 Dec; 138: 46–52. Published online 2017 Oct 12. doi: 10.1016/j.eplepsyres.2017.10.010

PMCID:: PMC5856459

Abstract Article PDF–685K

Select item 58376573.

Photosensitive epilepsy is associated with reduced inhibition of alpha rhythm generating networks

Anna Elisabetta Vaudano, Andrea Ruggieri, Pietro Avanzini, Giuliana Gessaroli, Gaetano Cantalupo, Antonietta Coppola, Sanjay M. Sisodiya, Stefano Meletti

Brain. 2017 Apr; 140(4): 981–997. Published online 2017 Feb 20. doi: 10.1093/brain/awx009

PMCID:: PMC5837657

Abstract Article PDF–1.0M

Select item 57872074.

Absence Seizures as a Feature of Juvenile Myoclonic Epilepsy in Rhodesian Ridgeback Dogs

F. Wielaender, F.M.K. James, M.A. Cortez, G. Kluger, J.N. Neßler, A. Tipold, H. Lohi, A. Fischer

J Vet Intern Med. 2018 Jan-Feb; 32(1): 428–432. Published online 2017 Nov 30. doi: 10.1111/jvim.14892

PMCID:: PMC5787207

Abstract Article PDF–594K

Select item 45208215.

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

Laura Canafoglia, Isabella Gilioli, Federica Invernizzi, Vito Sofia, Valeria Fugnanesi, Michela Morbin, Luisa Chiapparini, Tiziana Granata, Simona Binelli, Vidmer Scaioli, Barbara Garavaglia, Nardo Nardocci, Samuel F. Berkovic, Silvana Franceschetti

Neurology. 2015 Jul 28; 85(4): 316–324. doi: 10.1212/WNL.0000000000001784

PMCID:: PMC4520821

Abstract Article PDF–1.2M

Select item 44071926.

CHD2 variants are a risk factor for photosensitivity in epilepsy

Elizabeth C. Galizia, Candace T. Myers, Costin Leu, Carolien G. F. de Kovel, Tatiana Afrikanova, Maria Lorena Cordero-Maldonado, Teresa G. Martins, Maxime Jacmin, Suzanne Drury, V. Krishna Chinthapalli, Hiltrud Muhle, Manuela Pendziwiat, Thomas Sander, Ann-Kathrin Ruppert, Rikke S. Møller, Holger Thiele, Roland Krause, Julian Schubert, Anna-Elina Lehesjoki, Peter Nürnberg, Holger Lerche, for the EuroEPINOMICS CoGIE Consortium, Aarno Palotie, Antonietta Coppola, Salvatore Striano, Luigi Del Gaudio, Christopher Boustred, Amy L. Schneider, Nicholas Lench, Bosanka Jocic-Jakubi, Athanasios Covanis, Giuseppe Capovilla, Pierangelo Veggiotti, Marta Piccioli, Pasquale Parisi, Laura Cantonetti, Lynette G. Sadleir, Saul A. Mullen, Samuel F. Berkovic, Ulrich Stephani, Ingo Helbig, Alexander D. Crawford, Camila V. Esguerra, Dorothee G. A. Kasteleijn-Nolst Trenité, Bobby P. C. Koeleman, Heather C. Mefford, Ingrid E. Scheffer, Sanjay M. Sisodiya

Brain. 2015 May; 138(5): 1198–1207. Published online 2015 Mar 16. doi: 10.1093/brain/awv052

PMCID:: PMC4407192

Abstract Article PDF–464K

Select item 37479657.

Electroclinical phenotypes in a pedigreed baboon colony

C. Ákos Szabó, Koyle D. Knape, M. Michelle Leland, Jeff T. Williams

Epilepsy Res. Author manuscript; available in PMC 2014 Jul 1.

Published in final edited form as: Epilepsy Res. 2013 Jul; 105(0): 77–85. Published online 2013 Mar 15. doi: 10.1016/j.eplepsyres.2013.02.012

PMCID:: PMC3747965

Abstract Article PDF–2.2M

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