First steps

First steps

After the diagnosis, and once recovered, there are a couple of questions that need to be clarified, if possible, and quite some information that can be consulted. Patient discussion groups around the world are also an enormous source of hints, ideas and advice.

Gain-of-Function (GoF) or Loss-of-Function (LoF) 
In the majority of the cases, it can be identified whether the SCN2A mutation involves a 'Loss-of-Function' or a 'Gain-of-Function' – this is relevant, e.g. for the types of drugs which may work better against epilepsy.

Sources of information
Apart from the page you are currently visiting, patient groups in the United States (FamilieSCN2A Foundation) and in Australia (SCN2A Australia) exist already since several years and have very interesting information in their websites (links available under 'Contact').

Patient discussion groups
Several patient groups have created private Facebook groups where SCN2A families find a nice environment to discuss with other families and ask questions relating to SCN2A. Again, United States and Australia were the first offering this, today we count groups in UK, France and Spain, and also one managed by SCN2A Europe called 'European SCN2A families'.
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