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Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders.
Komulainen-Ebrahim J, Schreiber JM, Kangas SM, Pylkäs K, Suo-Palosaari M, Rahikkala E, Liinamaa J, Immonen EV, Hassinen I, Myllynen P, Rantala H, Hinttala R, Uusimaa J. Komulainen-Ebrahim J, et al. Among authors: schreiber jm. Seizure. 2019 Jul;69:99-104. doi: 10.1016/j.seizure.2019.03.010. Epub 2019 Mar 19. Seizure. 2019. PMID: 31004928 Free article.
Clinical characteristics and treatment experience of individuals with SCN8A developmental and epileptic encephalopathy (SCN8A-DEE): Findings from an online caregiver survey.
Cutts A, Savoie H, Hammer MF, Schreiber J, Grayson C, Luzon C, Butterfield N, Pimstone SN, Aycardi E, Harden C, Yonan C, Jen E, Nguyen T, Carmack T, Haubenberger D. Cutts A, et al. Seizure. 2022 Apr;97:50-57. doi: 10.1016/j.seizure.2022.03.008. Epub 2022 Mar 10. Seizure. 2022. PMID: 35325842 Free article.
SCN8A encephalopathy: Research progress and prospects.
Meisler MH, Helman G, Hammer MF, Fureman BE, Gaillard WD, Goldin AL, Hirose S, Ishii A, Kroner BL, Lossin C, Mefford HC, Parent JM, Patel M, Schreiber J, Stewart R, Whittemore V, Wilcox K, Wagnon JL, Pearl PL, Vanderver A, Scheffer IE. Meisler MH, et al. Among authors: schreiber j. Epilepsia. 2016 Jul;57(7):1027-35. doi: 10.1111/epi.13422. Epub 2016 Jun 8. Epilepsia. 2016. PMID: 27270488 Free PMC article.
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.
Zweier M, Begemann A, McWalter K, Cho MT, Abela L, Banka S, Behring B, Berger A, Brown CW, Carneiro M, Chen J, Cooper GM; Deciphering Developmental Disorders (DDD) Study; Finnila CR, Guillen Sacoto MJ, Henderson A, Hüffmeier U, Joset P, Kerr B, Lesca G, Leszinski GS, McDermott JH, Meltzer MR, Monaghan KG, Mostafavi R, Õunap K, Plecko B, Powis Z, Purcarin G, Reimand T, Riedhammer KM, Schreiber JM, Sirsi D, Wierenga KJ, Wojcik MH, Papuc SM, Steindl K, Sticht H, Rauch A. Zweier M, et al. Among authors: schreiber jm. Eur J Hum Genet. 2019 May;27(5):747-759. doi: 10.1038/s41431-018-0331-z. Epub 2019 Jan 21. Eur J Hum Genet. 2019. PMID: 30664714 Free PMC article.
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Keehan L, Haviland I, Gofin Y, Swanson LC, El Achkar CM, Schreiber J, VanNoy GE, O'Heir E, O'Donnell-Luria A, Lewis RA, Magoulas P, Tran A, Azamian MS, Chao HT, Pham L, Samaco RC, Elsea S, Thorpe E, Kesari A, Perry D, Lee B, Lalani SR, Rosenfeld JA, Olson HE, Burrage LC; Undiagnosed Diseases Network. Keehan L, et al. Am J Med Genet A. 2022 Dec;188(12):3516-3524. doi: 10.1002/ajmg.a.62940. Epub 2022 Aug 7. Am J Med Genet A. 2022. PMID: 35934918 Free PMC article.
57 results