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]