Article
Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment.
BMC medical genetics - 3 Feb 2016
Rodenas-Cuadrado Pedro, Pietrafusa Nicola, Francavilla Teresa, La Neve Angela, Striano Pasquale, Vernes Sonja C
Abstract excerpt
BACKGROUND: Heterozygous mutations in CNTNAP2 have been identified in patients with a range of complex phenotypes including intellectual disability, autism and schizophrenia. However heterozygous CNTNAP2 mutations are also found in the normal population. Conversely, homozygous mutations are rare in patient populations and have not been found in any unaffected individuals. CASE PRESENTATION: We describe a...
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