In this section
This page is intended as a quick reference for genes and copy number variants associated with various electroclinical epilepsy syndromes. It is not a comprehensive listing, nor is it a recommendation for mutation testing in any given circumstance. Many of the listed genes have been implicated in only a few families or individuals. Some have variants whose role in individuals is uncertain and can be found in unaffected people (see Klassen et al).
More information about gene function and clinical genetics can be found at OMIM and GeneReviews. Hyperlinks to genes in the table search OMIM for that gene. Other links in the table are to syndrome descriptions or other online resources for the condition.
Please direct suggestions for additions or modifications to the list or the page to Dr Jeremy Freeman.