This website provides information on patients with mutations in the CNTNAP2 (Contactin‑associated protein‑like2) gene, including clinical data, molecular data, management and research options.

Homozygous or compound heterozygous variants and/or intragenic deletions within CNTNAP2 gene were associated with Pitt-Hopkins like syndrome 1 (PTHSL1, MIM#610042), with variable features that included intellectual disability (ID), early seizure onset, regression of language ability, and hyper-breathing patterns. Given the lack of typical Pitt-Hopkins craniofacial features and hyper-breathing patterns in most patients, it has recently been proposed that biallelic loss of CNTNAP2 results in a disorder called “CASPR2-deficiency neurodevelopmental disorder”, which includes severe ID, early infantile seizures, language regression, variable presence of autistic features, hyporefexia and ataxia.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the CNTNAP2 gene.

Gianluca D'Onofrio, MD, University of Genoa, Genoa, Italy, gianlucadonofrio90@gmail.com

Andrea Accogli, MD, McGill University, Montreal, Canada, andrea.accogli@mail.mcgill.ca