Established Nov 2014
Updated Feb 2015

This database collects SCN1A mutations identified in patients with epilepsies and other neurological diseases, based mostly on reviewing published literature. We welcome information on SCN1A mutations from other sources.

This SCN1A mutation database aims to provide a practical tool for rapidly checking and comparing information on SCN1A mutations. A special section is on functional studies, which may be helpful in evaluating pathogenicity of SCN1A mutations and further management of patients.

Special attention has been paid on the information on inheritance of SCN1A mutations, such as origin (de novo or inherited), mosaicism, phenotype of transmitters, penetrance, which is expected to be useful in genetic counseling.

This database also provides a complete listing of SCN1A mutations and their relevant information, facilitating analyses by enabling direct access to the complete data.