Schematic of the HCN1 channel with the protein alterations caused by the mutations identified in patients with Dravet-like epilepsy. In 5/6 patients, the variants were confirmed to be de novo. When studied functionally, some mutations lead to a gain-of-function while other mutations results in decreased channel function. The phenotype of patients with HCN1 mutations resembles Dravet Syndrome with an unusual progression into atypical absences and autistic features (non-copyrighted preliminary version of figure provided by author)

Ingo Helbig

Child Neurology Fellow and epilepsy genetics researcher at the Children’s Hospital of Philadelphia (CHOP), USA and Department of Neuropediatrics, Kiel, Germany

Facebook Twitter 

Leave a Reply

This site uses Akismet to reduce spam. Learn how your comment data is processed.