Condition: Pitt-Hopkins-Like Syndrome 1


rs1554490549 in CNTNAP2 gene and Pitt-Hopkins-Like Syndrome 1 PMID 16571880 2006 Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.

PMID 21827697 2011 Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.