Article

Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment

2015-12-20

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> 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 common in the normal population. Conversely, homozygous mutations are rare and have not been found in unaffected individuals. <h4>Case presentation</h4> We descri...

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Literature Corpus work: eb2dea3a-1152-5616-97a0-3dd0216793c4
DOI: 10.1101/034363

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