EP.117Charcot-Marie-Tooth neuropathy, intellectual disability, intractable epilepsy, aggressiveness, and biallelic MCM3AP variants in two sibs

We report a new family with two affected individuals. The proband presented with slight early developmental delay and clumsiness. At 3y6m, he experienced a tonic-clonic seizure that later evolved into intractable epilepsy. Progressive regression of intellect and motor skills, and disturbed behavior were evident since 8-9y.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: S. Puusepp, K. Reinson, S. Pajusalu, E. Oiglane-Shlik, P. Ilves, M. Wojcik, K. Ounap Source Type: research