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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Schoch K, et al. Among authors: mikati ma. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.
Hemimegalencephaly with Bannayan-Riley-Ruvalcaba syndrome.
Ghusayni R, Sachdev M, Gallentine W, Mikati MA, McDonald MT. Ghusayni R, et al. Among authors: mikati ma. Epileptic Disord. 2018 Feb 1;20(1):30-34. doi: 10.1684/epd.2018.0954. Epileptic Disord. 2018. PMID: 29444762
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH; Care4Rare Canada Consortium; Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. Klöckner C, et al. Among authors: mikati ma. Genet Med. 2021 Apr;23(4):653-660. doi: 10.1038/s41436-020-01020-w. Epub 2020 Dec 10. Genet Med. 2021. PMID: 33299146 Free article.
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH; Care4Rare Canada Consortium; Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. Klöckner C, et al. Among authors: mikati ma. Genet Med. 2021 Apr;23(4):796. doi: 10.1038/s41436-020-01090-w. Genet Med. 2021. PMID: 33686260 Free article. No abstract available.
Neuronal mechanism of a BK channelopathy in absence epilepsy and dyskinesia.
Dong P, Zhang Y, Hunanyan AS, Mikati MA, Cui J, Yang H. Dong P, et al. Among authors: mikati ma. Proc Natl Acad Sci U S A. 2022 Mar 22;119(12):e2200140119. doi: 10.1073/pnas.2200140119. Epub 2022 Mar 14. Proc Natl Acad Sci U S A. 2022. PMID: 35286197 Free PMC article.
257 results