Genetic convergence of developmental and epileptic encephalopathies and intellectual disability
- Carvill, G.L.
- Jansen, S
- Lacroix, A.
- Zemel, M.
- Mehaffey, M.
- Vries, P.F. de
- Brunner, H.G.
- Scheffer, I.E.
- Vries, B.B. de
- Vissers, L.E.L.M.
- Mefford, H.C.
DOIAbstract
Item does not contain fulltextAIM: To determine whether genes that cause developmental and epileptic encephalopathies (DEEs) are more commonly implicated in intellectual disability with epilepsy as a comorbid feature than in intellectual disability only. METHOD: We performed targeted resequencing of 18 genes commonly implicated in DEEs in a cohort of 830 patients with intellectual disability (59% male) and 393 patients with DEEs (52% male). RESULTS: We observed a significant enrichment of pathogenic/likely pathogenic variants in patients with epilepsy and intellectual disability (16 out of 159 in seven genes) compared with intellectual disability only (2 out of 671) (p<1.86×10(-10) , odds ratio 37.22, 95% confidence interval 8.60-337.0). IN...
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