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Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations.
Alame S, El-Houwayek E, Nava C, Sabbagh S, Fawaz A, Gillart AC, Hasbini D, Depienne C, Mégarbané A. Alame S, et al. Among authors: megarbane a. Case Rep Med. 2019 Jan 21;2019:5270503. doi: 10.1155/2019/5270503. eCollection 2019. Case Rep Med. 2019. PMID: 30805006 Free PMC article.
Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.
Choucair N, Ghoch JA, Corbani S, Cacciagli P, Mignon-Ravix C, Salem N, Jalkh N, El Sabbagh S, Fawaz A, Ibrahim T, Villard L, Mégarbané A, Chouery E. Choucair N, et al. Among authors: megarbane a. Mol Cytogenet. 2015 Apr 9;8:26. doi: 10.1186/s13039-015-0130-y. eCollection 2015. Mol Cytogenet. 2015. PMID: 25922617 Free PMC article.
A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2).
El-Bazzal L, Atkinson A, Gillart AC, Obeid M, Delague V, Mégarbané A. El-Bazzal L, et al. Among authors: megarbane a. Eur J Med Genet. 2019 Apr;62(4):259-264. doi: 10.1016/j.ejmg.2018.07.025. Epub 2018 Jul 31. Eur J Med Genet. 2019. PMID: 30075207
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D. Bramswig NC, et al. Among authors: megarbane a. Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23. Hum Genet. 2018. PMID: 30167850 Free PMC article.
392 results