This website provides information on patients with mutations in the KCNT2 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in KCNT2 gene is a multisystem disorder characterized by developmental delay/intellectual disability and epilepsy.
However, only a small number of families have been reported with an affected individual with a mutation in the KCNT2 gene, so we are not yet sure if all individuals with a mutation in the KCNT2 gene have these features.
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 KCNT2 gene.
Elizabeth Palmer, MD, PhD, University of New South Wales, Genetics of Learning Disability Service, Australia, firstname.lastname@example.org
Arin Bhattacharjee, PhD, The State University of New York at Buffalo, Buffalo, USA, email@example.com
Rebecca Macintosh, Graduate Diploma of Genetic Counselling, Sydney Children’s Hospital, Randwick, Australia, Rebecca.firstname.lastname@example.org