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Page 1
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: gillart ac. 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 next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P, Sabbagh S, Mansour H, Fawaz A, Hmaimess G, Noun P, Dagher R, Megarbane H, Hana S, Alame S, Lamaa M, Hasbini D, Farah R, Rajab M, Stora S, El-Tourjuman O, Abou Jaoude P, Chalouhi G, Sayad R, Gillart AC, Al-Ali M, Delague V, El-Hayek S, Mégarbané A. Nair P, et al. Among authors: gillart ac. Mol Genet Genomic Med. 2018 Nov;6(6):1041-1052. doi: 10.1002/mgg3.480. Epub 2018 Oct 7. Mol Genet Genomic Med. 2018. PMID: 30293248 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: gillart ac. 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