Clinical whole exome sequencing in child neurology practice

Original research article by S. Srivastava et al. (2014).

Read the abstract here.

78 individuals with developmental delay (DD), intellectual disability (ID), cerebral palsy (CP), or autism (ASD), had whole exome sequencing as part of this study. One individual in the study was identified to have a SCN2A mutation. The individual described in this study (age 18 at the time of genetic diagnosis) had never been diagnosed with either intellectual disability or autism, but was noted to have epileptic encephalopathy.