CNTNAP1 is located on chromosome 17q21 and encodes a contactin-associated transmembrane receptor (CASPR), highly essential in the formation of paranodal axoglial junctions in myelinated axons. CNTNAP1 is also involved in regulating neural progenitor cells and the development of cerebral cortex.
CHN3 can be caused by either homozygous or compound heterozygous mutation in the CNTNAP1 gene. LCCS7 is only caused by a homozygous mutation.
CNTNAP1