Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID

For a large number of individuals with intellectual disability (ID), the molecular basis of the disorder is still unknown. However, whole-exome sequencing (WES) is providing more and more insights into the genetic landscape of ID. In the present study, we performed trio-based WES in 311 patients wit...

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