Article
Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Apr 2012
Duong Linh, Klitten Laura L, Møller Rikke S, Ingason Andrés, Jakobsen Klaus D, Skjødt Celina, Didriksen Michael, Hjalgrim Helle, Werge Thomas, Tommerup Niels
Abstract excerpt
Mutation of the neurexin1-gene, NRXN1, interrupting the expression of neurexin1 has been associated with schizophrenia, autism, and intellectual disability. We have identified a family multiply affected with psychiatric, neurological, and somatic disorders along with an intricate co-segregation of NRXN1 mutations. The proband suffered from autism, mental retardation, and epilepsy and on genotyping it was revealed...
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