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mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.
Calhoun JD, Aziz MC, Happ HC, Gunti J, Gleason C, Mohamed N, Zeng K, Hiller M, Bryant E, Mithal DS, Bellinski I, Kinsley L, Grimmel M, Schwaibold EMC, Smith-Hicks C, Chassevent A, Scala M, Accogli A, Torella A, Striano P, Capra V, Bird LM, Ben-Sahra I, Ekhilevich N, Hershkovitz T, Weiss K, Millichap J, Gerard EE, Carvill GL. Calhoun JD, et al. Among authors: gerard ee. Brain. 2022 Jun 30;145(6):1939-1948. doi: 10.1093/brain/awab451. Brain. 2022. PMID: 35773235 Free PMC article.
Patients with generalized epilepsy are also at risk for SUDEP.
Pavlova M, Gerard EE, Cascino GD. Pavlova M, et al. Among authors: gerard ee. Neurology. 2020 Apr 21;94(16):689-690. doi: 10.1212/WNL.0000000000009286. Epub 2020 Mar 26. Neurology. 2020. PMID: 32217774 No abstract available.
CACNA1H variants are not a cause of monogenic epilepsy.
Calhoun JD, Huffman AM, Bellinski I, Kinsley L, Bachman E, Gerard E, Kearney JA, Carvill GL. Calhoun JD, et al. Hum Mutat. 2020 Jun;41(6):1138-1144. doi: 10.1002/humu.24017. Epub 2020 Apr 14. Hum Mutat. 2020. PMID: 32227660 Free PMC article.
Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Happ HC, Sadleir LG, Zemel M, de Valles-Ibáñez G, Hildebrand MS, McConkie-Rosell A, McDonald M, May H, Sands T, Aggarwal V, Elder C, Feyma T, Bayat A, Møller RS, Fenger CD, Klint Nielsen JE, Datta AN, Gorman KM, King MD, Linhares ND, Burton BK, Paras A, Ellard S, Rankin J, Shukla A, Majethia P, Olson RJ, Muthusamy K, Schimmenti LA, Starnes K, Sedláčková L, Štěrbová K, Vlčková M, Laššuthová P, Jahodová A, Porter BE, Couque N, Colin E, Prouteau C, Collet C, Smol T, Caumes R, Vansenne F, Bisulli F, Licchetta L, Person R, Torti E, McWalter K, Webster R, Gerard EE, Lesca G, Szepetowski P, Scheffer IE, Mefford HC, Carvill GL. Happ HC, et al. Among authors: gerard ee. Neurology. 2023 Feb 7;100(6):e603-e615. doi: 10.1212/WNL.0000000000201492. Epub 2022 Oct 28. Neurology. 2023. PMID: 36307226 Free PMC article.
Fetal loss and malformations in the MONEAD study of pregnant women with epilepsy.
Meador KJ, Pennell PB, May RC, Van Marter L, McElrath TF, Brown C, Gerard E, Kalayjian L, Gedzelman E, Penovich P, Cavitt J, French J, Hwang S, Pack AM, Sam M, Birnbaum AK, Finnell R; MONEAD Investigator Group. Meador KJ, et al. Neurology. 2020 Apr 7;94(14):e1502-e1511. doi: 10.1212/WNL.0000000000008687. Epub 2019 Dec 5. Neurology. 2020. PMID: 31806691 Free PMC article.
Initiation and Duration of Breastfeeding in the Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs Study.
Gerard EE, Meador KJ, Robalino CP, Brown CA, Matthews AG, Voinescu PE, Kalayjian LA, Gedzelman E, Hanna J, Cavitt J, Sam M, French JA, Pack AM, Hwang ST, Tsai JJ, Taylor C, Pennell PB; MONEAD Investigator Study Group. Gerard EE, et al. Neurology. 2023 Nov 27;101(22):e2266-e2276. doi: 10.1212/WNL.0000000000207812. Neurology. 2023. PMID: 37816636 Free PMC article.
Behavioral Outcomes and Neurodevelopmental Disorders Among Children of Women With Epilepsy.
Cohen MJ, Meador KJ, Loring DW, Matthews AG, Brown C, Robalino CP, Birnbaum AK, Voinescu PE, Kalayjian LA, Gerard EE, Gedzelman ER, Hanna J, Cavitt J, Sam MC, French JA, Hwang ST, Pack AM, Pennell PB; Maternal Outcomes and Neurodevelopmental Effects of Antiepileptic Drugs (MONEAD) Investigator Group. Cohen MJ, et al. Among authors: gerard ee. JAMA Neurol. 2024 Jan 1;81(1):19-29. doi: 10.1001/jamaneurol.2023.4315. JAMA Neurol. 2024. PMID: 37983058 Free PMC article.
Changes in antiepileptic drug-prescribing patterns in pregnant women with epilepsy.
Meador KJ, Pennell PB, May RC, Gerard E, Kalayjian L, Velez-Ruiz N, Penovich P, Cavitt J, French J, Hwang S, Pack AM, Sam M, Moore E, Ippolito DM; MONEAD Investigator Group. Meador KJ, et al. Epilepsy Behav. 2018 Jul;84:10-14. doi: 10.1016/j.yebeh.2018.04.009. Epub 2018 May 3. Epilepsy Behav. 2018. PMID: 29730500 Free PMC article.
75 results