SCN1B-linked early infantile developmental and epileptic encephalopathy.
Alec AebyClaudine SculierAlexandra A BouzaBrandon AskarDamien LedererAnne-Sofie SchoonjansMarc Vander GhinstBerten CeulemansJames OffordLuis F Lopez-SantiagoLori L IsomPublished in: Annals of clinical and translational neurology (2019)
Importantly, a review of the literature in light of our results suggests that the term, early infantile developmental and epileptic encephalopathy, is more appropriate than either EIEE or DS to describe biallelic SCN1B patients.