SCN1A.net aims for the development of SCN1A research and gene testing by offering a new tool to research scientists where they can obtain the newest SCN1A variants and their phenotypes, compiled from various publications. It is also a useful tool for physicians who can confirm the classification (type) of variants found in their patients or even for diagnosis by variants. SCN1A.net will be an ever-evolving database, always up-to-date with the latest news and breakthroughs on SCN1A as well as new variants that are always being reported.
Variant Type Proportion
Message from SCN1A.net
Recently, gene discovery by Next Generation Sequencing (NGS) has been prevalent and helping further elucidate the molecular mechanisms of epilepsies. On the other hand, research on specific genes has been shrinking, as is the case for the SCN1A Gene. Since the discovery of it’s involvement in Generalized Epilepsy with Febrile Seizures Plus (GEFS+) in 2000 and Dravet Syndrome (DS) in 2001, thousands of variants have been reported. Although it was a great beginning, interest has been on decline and it’s still a challenge for scientists to obtain new knowledge and develop their studies further. We hope this website can serve as another clue for finding something new in SCN1A or Nav1.1 research.