Mendelian disease-gene links are increasingly being recognized for the spectrin genes, with SPTAN1, SPTBN1, SPTBN2 and SPTBN4 linked to neurological diseases such as developmental and epileptic encephalopathy (DEE), ataxia, hereditary spastic paraplegia, and hereditary motor neuropathy. This evidence concerns the gene SPTBN2 and developmental and epileptic encephalopathy.