PMC Articles for MedGen (Select 1841580) - PMC

Select item 106907021.

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

Nathan Buijsse, Floor E. Jansen, Charlotte W. Ockeloen, Marjan J. A. van Kempen, Shimriet Zeidler, Marjolein H. Willemsen, Emanuela Scarano, Sonia Monticone, Evelien Zonneveld‐Huijssoon, Karen J. Low, Allan Bayat, Sanjay M. Sisodiya, Debopam Samanta, Gaetan Lesca, Danielle de Jong, Jaqcues C. Giltay, Nienke E. Verbeek, Tjitske Kleefstra, Eva H. Brilstra, Danique R. M. Vlaskamp

Epilepsia Open. 2023 Dec; 8(4): 1300–1313. Published online 2023 Aug 18. doi: 10.1002/epi4.12799

PMCID:: PMC10690702

Abstract Article PDF–487K

Select item 102002892.

NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold

Philip H Iffland, II, Mariah E Everett, Katherine M Cobb-Pitstick, Lauren E Bowser, Allan E Barnes, Janice K Babus, Andrea J Romanowski, Marianna Baybis, Soad Elziny, Erik G Puffenberger, Claudia Gonzaga-Jauregui, Alexandros Poulopoulos, Vincent J Carson, Peter B Crino

Brain. 2022 Nov; 145(11): 3872–3885. Published online 2022 Feb 8. doi: 10.1093/brain/awac044

PMCID:: PMC10200289

Abstract Article PDF–1.4M

Select item 82724083.

Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable

David Lewis-Smith, Peter D. Galer, Ganna Balagura, Hugh Kearney, Shiva Ganesan, Mahgenn Cosico, Margaret O’Brien, Priya Vaidiswaran, Roland Krause, Colin A. Ellis, Rhys H. Thomas, Peter N. Robinson, Ingo Helbig

Epilepsia. Author manuscript; available in PMC 2021 Aug 30.

Published in final edited form as: Epilepsia. 2021 Jun; 62(6): 1293–1305. Published online 2021 May 5. doi: 10.1111/epi.16908

PMCID:: PMC8272408

Abstract Article PDF–993K

Select item 38513044.

Polymicrogyria-associated epilepsy: a multi-center phenotypic study from the Epilepsy Phenome/Genome Project

Catherine Shain, Sriram Ramgopal, Zianka Fallil, Isha Parulkar, Richard Alongi, Robert Knowlton, Annapurna Poduri, the EPGP Investigators

Epilepsia. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: Epilepsia. 2013 Aug; 54(8): 10.1111/epi.12238. Published online 2013 Jun 10. doi: 10.1111/epi.12238

PMCID:: PMC3851304

Abstract Article PDF–309K

Select item 35663725.

mRNA Blood Expression Patterns In New Onset Idiopathic Pediatric Epilepsy

Hansel M Greiner, Paul S Horn, Katherine Holland, James Collins, Andrew D Hershey, Tracy A Glauser

Epilepsia. Author manuscript; available in PMC 2014 Feb 1.

Published in final edited form as: Epilepsia. 2013 Feb; 54(2): 272–279. Published online 2012 Nov 21. doi: 10.1111/epi.12016

PMCID:: PMC3566372

Abstract Article PDF–1.5M

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