SCN8A and SCN2A related diseases are extremely rare, likely under diagnosed, neurodevelopmental disorders caused by variants to the SCN2A / SCN8A genes. Outcomes vary, but the disorders often cause severe epilepsy, intellectual disability, autism, movement disorder and risk of sudden unexpected death in epilepsy. While sharing similarities with better known Dravet Syndrome (SCN1A), SCN8A/2A are different and can require different treatment. Improved awareness and early diagnosis are key.
At this critical time, the conference brings together specialist clinicians, researchers and patient advocates. This intersection of data, expertise and research will enhance insight into genotype/phenotype relationships, enrich knowledge of optimum therapies, and stimulate ideas for new research streams.
See the program, as well as, in the family societies websites www.scn8a.eu and www.scn2a-conference.eu)