Story of a genetic shape-shifter: SCN2A in benign seizures, autism and epileptic encephalopathy

The other sodium channel gene. The week before Christmas, the Kiel group identified its first patient with SCN2A encephalopathy. At the same time, a questionably benign SNP in the same gene is haunting our Israel Epilepsy Family Project. Time to review the mysterious SCN2A gene that initially entered the scene as a candidate for a rare, benign familial epilepsy syndrome – only to return as one of the most prominent genes for autism, intellectual disability, and epileptic encephalopathies to date. Continue reading

Looking back at 2012 – The year in epilepsy genetics

Concluding remarks. 2012 was an exciting year in epilepsy genetics with many surprises in the field. During this final post of this year, we would like to look back at our posts of the year, summarizing the post that received the most attention and also summarizing the posts that we didn’t write. Continue reading