Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.


To seek additional evidence for a role for loss-of-function mutations at SCN2A in schizophrenia we performed mutation screening of the entire coding sequence in 980 schizophrenia cases. Given an absence of LoF mutations in a public exome cohort (ESP6500, N=6503) we did not additionally sequence controls.


There is a growing body of evidence suggesting a shared genetic susceptibility between many neuropsychiatric disorders, including schizophrenia, autism, intellectual disability and epilepsy. The sodium channel, voltage-gated type II alpha subunit gene SCN2A has been shown to exhibit loss-of-function mutations in individuals with seizure disorders, intellectual disability, autism and schizophrenia. The role of loss-of-function mutations in schizophrenia is still uncertain with only one such mutation identified to date.

Psychiatric genetics 26.2 (2016): 60.
Carroll, Liam S., et al.