This website provides information on patients with mutations in the HCN1 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the HCN1 gene is a multisystem disorder characterized by infantile onset epileptic seizures either focal or generalized and triggered by febrile illness in about 50% of patients. Seizures in most patients prove to be drug resistant and not responding to treatment with conventional antiepileptic drugs. In association to seizures about 60% of patients develop cognitive and motor impairment of variable severity from mild to severe with absent speech and no autonomous ambulation. However, not all individuals with a mutation HCN1 have these features, and milder forms, mainly generalized epilepsies with good prognosis, also exist.
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 HCN1 gene.
Christel Depienne, PhD, Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany, firstname.lastname@example.org
Carla Marini, MD, PhD, Centre of Excellence in Neuroscience, Paediatric Hospital A. Meyer; University of Florence, Florence, Italy, email@example.com