Schematic drawing of CNTNAP2 with localization of novel and published mutations and deletions. Schematic drawing of genomic structure of CNTNAP2 showing domain-coding exons and localization of mutations and deletions. Mutations and deletions found in our study are represented by black arrows and bars. Published biallelic aberrations are shown with black dotted lines, whereas heterozygous defects are shown in grey. Abbreviations are as follows: SP, signal peptide; DISC, discoidin-like domain; LamG, laminin-G domain; EGF, epidermal growth factor like domain; FIB, fibrinogen-like domain; TM, transmembrane region; PDZBD, PDZ-domain binding site.