Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

• Main Authors: Raffaele Falsaperla (Author), Xena Giada Pappalardo (Author), Catia Romano (Author), Simona Domenica Marino (Author), Giovanni Corsello (Author), Martino Ruggieri (Author), Enrico Parano (Author), Piero Pavone (Author)
• Format: Book
• Published: Frontiers Media S.A., 2020-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CN...