Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability

Conclusions
PIGC joins the list of genes in which mutations result in defective biosynthesis of GPI anchoring, manifesting by global developmental delay and seizure disorder. The lack of specific biomarker dictates exome sequencing as the diagnostic procedure of choice in similar patients.

Source: Journal of Medical Genetics - February 17, 2017 Category: Genetics & Stem Cells Authors: Edvardson, S., Murakami, Y., Nguyen, T. T. M., Shahrour, M., St-Denis, A., Shaag, A., Damseh, N., Le Deist, F., Bryceson, Y., Abu-Libdeh, B., Campeau, P. M., Kinoshita, T., Elpeleg, O. Tags: Genetic screening / counselling, Immunology (including allergy), Epilepsy and seizures New loci Source Type: research