Case Series
Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations
Table 1
Types of SCN1A mutations found in the Lebanese patients.
| Intron/exon | Variant type | cDNA change | Protein change | Inheritance | Previously described |
| Exon 3 | Missense | c.428T > C | p.(Val143Ala) | De novo | No | Intron 4 | Duplication | c.602 + 2dupT | p.? | De novo | No | Exon 15 | Missense | c.2836C > T | p.(Arg946Cys) | De novo | Fukuma [6] | Exon 22 | Missense | c.4313T > C | p.(Met1438Thr) | De novo | No | Exon 24 | Nonsense | c.4513A > T | p.(Lys1505) | De novo | No | Exon 26 | Missense | c.4907G > A | p.(Arg1636Gln) | De novo | Harkin et al. [7] | Exon 26 | Missense | c.5195C > T | p.(Pro1732Leu) | De novo | Bayat et al. [8] |
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