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Table 1 Comparison of PCDH19 mutations identified in this study (bold) and previously described PCDH19 mutations in females with EIEE9

From: Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report

Mutation Exon Type Onset of seizures, months Intelligence Source
c.445C > T p.Pro149Ser 1 Missense 17 normal [19]
c.695A > G (p.Asn232Ser) 1 Missense 4 intellectual disability [20]
c.918C > G, p.Tyr306* 1 Nonsense 20 normal [21]
c.937G > A p.Glu307Lys 1 Missense 70 normal [19]
c.919G > A p.Glu313Lys 1 Missense 32 normal [19]
c.1183C > T (p.Arg395*) 1 Nonsense 8 intellectual disability [22]
c.1236C > A (p.Asp412Glu) 1 Missense 38 normal This study (Patient 2)
c.1681C > T, p.Pro561Ser 1 Missense 14 normal [21]
c.1765_1766delTG p.Val589CysfsX8 1 Frameshift 9 intellectual disability [19]
c.2386_2387insGTCT (p.Thr796fs) 3 Frameshift 36 normal This study (Patient 1)
c2468delT, p.L823fs 3 Frameshift 18 intellectual disability [23]