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Severe speech impairment is a distinguishing feature of FOXP1-related disorder.
Braden RO, Amor DJ, Fisher SE, Mei C, Myers CT, Mefford H, Gill D, Srivastava S, Swanson LC, Goel H, Scheffer IE, Morgan AT. Braden RO, et al. Among authors: myers ct. Dev Med Child Neurol. 2021 Dec;63(12):1417-1426. doi: 10.1111/dmcn.14955. Epub 2021 Jun 9. Dev Med Child Neurol. 2021. PMID: 34109629 Free article.
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.
Sadleir LG, Mountier EI, Gill D, Davis S, Joshi C, DeVile C, Kurian MA; DDD Study; Mandelstam S, Wirrell E, Nickels KC, Murali HR, Carvill G, Myers CT, Mefford HC, Scheffer IE. Sadleir LG, et al. Among authors: myers ct. Neurology. 2017 Sep 5;89(10):1035-1042. doi: 10.1212/WNL.0000000000004331. Epub 2017 Aug 9. Neurology. 2017. PMID: 28794249 Free PMC article.
Advancing epilepsy genetics in the genomic era.
Myers CT, Mefford HC. Myers CT, et al. Genome Med. 2015 Aug 25;7(1):91. doi: 10.1186/s13073-015-0214-7. Genome Med. 2015. PMID: 26302787 Free PMC article. Review.
A targeted resequencing gene panel for focal epilepsy.
Hildebrand MS, Myers CT, Carvill GL, Regan BM, Damiano JA, Mullen SA, Newton MR, Nair U, Gazina EV, Milligan CJ, Reid CA, Petrou S, Scheffer IE, Berkovic SF, Mefford HC. Hildebrand MS, et al. Among authors: myers ct. Neurology. 2016 Apr 26;86(17):1605-12. doi: 10.1212/WNL.0000000000002608. Epub 2016 Mar 30. Neurology. 2016. PMID: 27029629 Free PMC article.
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J. Corbett MA, et al. Among authors: myers ct. Neurology. 2016 Nov 8;87(19):1975-1984. doi: 10.1212/WNL.0000000000003309. Epub 2016 Oct 12. Neurology. 2016. PMID: 27733563 Free PMC article.
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.
Vlaskamp DRM, Shaw BJ, Burgess R, Mei D, Montomoli M, Xie H, Myers CT, Bennett MF, XiangWei W, Williams D, Maas SM, Brooks AS, Mancini GMS, van de Laar IMBH, van Hagen JM, Ware TL, Webster RI, Malone S, Berkovic SF, Kalnins RM, Sicca F, Korenke GC, van Ravenswaaij-Arts CMA, Hildebrand MS, Mefford HC, Jiang Y, Guerrini R, Scheffer IE. Vlaskamp DRM, et al. Among authors: myers ct. Neurology. 2019 Jan 8;92(2):e96-e107. doi: 10.1212/WNL.0000000000006729. Epub 2018 Dec 12. Neurology. 2019. PMID: 30541864 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: myers ct. 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.
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL. Myers CT, et al. Am J Hum Genet. 2017 Oct 5;101(4):516-524. doi: 10.1016/j.ajhg.2017.08.013. Epub 2017 Sep 21. Am J Hum Genet. 2017. PMID: 28942967 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: myers ct. Epilepsia. 2018 Jun;59(6):1177-1187. doi: 10.1111/epi.14087. Epub 2018 May 11. Epilepsia. 2018. PMID: 29750358 Free PMC article.
84 results