SCN1A. Finally, after various other epilepsy genes have been added, we are trying to put together a static website on SCN1A rather than updates only. SCN1A is by far the most prominent epilepsy gene and the first genetic etiology that comes to mind for anything relating to fever and seizures. While our Epilepsiome page will give you all the relevant facts regarding this gene, here is my personal view on the SCN1A story. Continue reading
Category Archives: SCN1A
Publications of the week – SCN1A in encephalopathy after febrile seizures, SLC12A5/KCC2 in MMPSI
Issue 14/2015. This week’s publications of the week are about a novel phenotype consisting of persistent encephalopathies with MRI findings associated with SCN1A and SCN2A mutations, a novel gene for Malignant Migrating Partial Seizures of Infancy (MMPSI). Continue reading