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Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.
Brown NJ, Ye Z, Stutterd C, Jayasinghe SI, Schneider A, Mullen S, Mandelstam SA, Hildebrand MS. Brown NJ, et al. Among authors: schneider a. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006127. doi: 10.1101/mcs.a006127. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34588213 Free PMC article.
CHD2 variants are a risk factor for photosensitivity in epilepsy.
Galizia EC, Myers CT, Leu C, de Kovel CG, Afrikanova T, Cordero-Maldonado ML, Martins TG, Jacmin M, Drury S, Krishna Chinthapalli V, Muhle H, Pendziwiat M, Sander T, Ruppert AK, Møller RS, Thiele H, Krause R, Schubert J, Lehesjoki AE, Nürnberg P, Lerche H; EuroEPINOMICS CoGIE Consortium; Palotie A, Coppola A, Striano S, Gaudio LD, Boustred C, Schneider AL, Lench N, Jocic-Jakubi B, Covanis A, Capovilla G, Veggiotti P, Piccioli M, Parisi P, Cantonetti L, Sadleir LG, Mullen SA, Berkovic SF, Stephani U, Helbig I, Crawford AD, Esguerra CV, Kasteleijn-Nolst Trenité DG, Koeleman BP, Mefford HC, Scheffer IE, Sisodiya SM. Galizia EC, et al. Among authors: schneider al. Brain. 2015 May;138(Pt 5):1198-207. doi: 10.1093/brain/awv052. Epub 2015 Mar 17. Brain. 2015. PMID: 25783594 Free PMC article.
Epileptic spasms are a feature of DEPDC5 mTORopathy.
Carvill GL, Crompton DE, Regan BM, McMahon JM, Saykally J, Zemel M, Schneider AL, Dibbens L, Howell KB, Mandelstam S, Leventer RJ, Harvey AS, Mullen SA, Berkovic SF, Sullivan J, Scheffer IE, Mefford HC. Carvill GL, et al. Among authors: schneider al. Neurol Genet. 2015 Jul 23;1(2):e17. doi: 10.1212/NXG.0000000000000016. eCollection 2015 Aug. Neurol Genet. 2015. PMID: 27066554 Free PMC article.
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.
Carvill GL, Liu A, Mandelstam S, Schneider A, Lacroix A, Zemel M, McMahon JM, Bello-Espinosa L, Mackay M, Wallace G, Waak M, Zhang J, Yang X, Malone S, Zhang YH, Mefford HC, Scheffer IE. Carvill GL, et al. Among authors: schneider a. Epilepsia. 2018 Jan;59(1):e5-e13. doi: 10.1111/epi.13957. Epub 2017 Nov 24. Epilepsia. 2018. PMID: 29171013 Free PMC article.
A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy.
Howell KB, Eggers S, Dalziel K, Riseley J, Mandelstam S, Myers CT, McMahon JM, Schneider A, Carvill GL, Mefford HC; Victorian Severe Epilepsy of Infancy Study Group; Scheffer IE, Harvey AS. Howell KB, et al. Among authors: schneider a. Epilepsia. 2018 Jun;59(6):1177-1187. doi: 10.1111/epi.14087. Epub 2018 May 11. Epilepsia. 2018. PMID: 29750358 Free PMC article.
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Burgess R, Wang S, McTague A, Boysen KE, Yang X, Zeng Q, Myers KA, Rochtus A, Trivisano M, Gill D; EIMFS Consortium; Sadleir LG, Specchio N, Guerrini R, Marini C, Zhang YH, Mefford HC, Kurian MA, Poduri AH, Scheffer IE. Burgess R, et al. Ann Neurol. 2019 Dec;86(6):821-831. doi: 10.1002/ana.25619. Ann Neurol. 2019. PMID: 31618474 Free PMC article.
SCN1A Variants in vaccine-related febrile seizures: A prospective study.
Damiano JA, Deng L, Li W, Burgess R, Schneider AL, Crawford NW, Buttery J, Gold M, Richmond P, Macartney KK, Hildebrand MS, Scheffer IE, Wood N, Berkovic SF. Damiano JA, et al. Among authors: schneider al. Ann Neurol. 2020 Feb;87(2):281-288. doi: 10.1002/ana.25650. Epub 2019 Dec 12. Ann Neurol. 2020. PMID: 31755124
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families.
Bennett MF, Oliver KL, Regan BM, Bellows ST, Schneider AL, Rafehi H, Sikta N, Crompton DE, Coleman M, Hildebrand MS, Corbett MA, Kroes T, Gecz J, Scheffer IE, Berkovic SF, Bahlo M. Bennett MF, et al. Among authors: schneider al. Eur J Hum Genet. 2020 Jul;28(7):973-978. doi: 10.1038/s41431-020-0606-z. Epub 2020 Mar 16. Eur J Hum Genet. 2020. PMID: 32203200 Free PMC article.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Palencia-Campos A, Aoto PC, Machal EMF, Rivera-Barahona A, Soto-Bielicka P, Bertinetti D, Baker B, Vu L, Piceci-Sparascio F, Torrente I, Boudin E, Peeters S, Van Hul W, Huber C, Bonneau D, Hildebrand MS, Coleman M, Bahlo M, Bennett MF, Schneider AL, Scheffer IE, Kibæk M, Kristiansen BS, Issa MY, Mehrez MI, Ismail S, Tenorio J, Li G, Skålhegg BS, Otaify GA, Temtamy S, Aglan M, Jønch AE, De Luca A, Mortier G, Cormier-Daire V, Ziegler A, Wallis M, Lapunzina P, Herberg FW, Taylor SS, Ruiz-Perez VL. Palencia-Campos A, et al. Among authors: schneider al. Am J Hum Genet. 2020 Nov 5;107(5):977-988. doi: 10.1016/j.ajhg.2020.09.005. Epub 2020 Oct 14. Am J Hum Genet. 2020. PMID: 33058759 Free PMC article.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade DM, Balcik Y, Ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk ØL, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D, Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, Küry S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K, Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang YH, Møller RS, Scheffer IE. Stamberger H, et al. Among authors: schneider al. Genet Med. 2021 Feb;23(2):363-373. doi: 10.1038/s41436-020-00988-9. Epub 2020 Nov 4. Genet Med. 2021. PMID: 33144681 Free article.
4,800 results