Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID
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DOI: 10.1038/ejhg.2017.52
Abstract: 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.… read more here.
Keywords: epilepsy; two families; myoclonic epilepsy; cplx1 two ... See more keywords