Article
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.
Molecular psychiatry - 1 Mar 2008
Friedman J I, Vrijenhoek T, Markx S, Janssen I M, van der Vliet W A, Faas B H W, Knoers N V, Cahn W, Kahn R S, Edelmann L, Davis K L, Silverman J M, Brunner H G, van Kessel A Geurts, Wijmenga C, Ophoff R A, Veltman J A
Abstract excerpt
A homozygous mutation of the CNTNAP2 gene has been associated with a syndrome of focal epilepsy, mental retardation, language regression and other neuropsychiatric problems in children of the Old Order Amish community. Here we report genomic rearrangements resulting in haploinsufficiency of the CNTNAP2 gene in association with epilepsy and schizophrenia. Genomic deletions of varying sizes affecting the CNTNAP2...
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