Genetic and phenotypic diversity of <scp><i>NHE</i></scp><i>6</i> mutations in <scp>C</scp>hristianson syndrome

Abstract

This is the largest cohort of independent CS pedigrees reported. We propose diagnostic criteria for CS. CS represents a novel neurogenetic disorder with general relevance to autism, intellectual disability, Angelman syndrome, epilepsy, and regression.