Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice.
Jessica L HaighAnna AdhikariNycole A CoppingTyler StradleighA Ayanna WadeRinaldo Catta-PretaLinda Su-FeherIva ZdilarSarah MorseTimothy A FentonAnh NguyenDiana QuinteroSamrawit AgezewMichael SramekEllie J KreunJasmine CarterAndrea GompersJason T LambertCesar P CanalesLen A PennacchioAxel ViselDiane E DickelJill L SilvermanAlexander S NordPublished in: Genome medicine (2021)
This work contributes to functional dissection of the regulatory wiring of a major epilepsy risk gene, SCN1A. We identified the 1b region as a critical disease-relevant regulatory element and provide evidence that non-canonical and seemingly redundant promoters can have essential function.