Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes

• Main Authors: Anaïs Begemann (Author), Mario A. Acuña (Author), Markus Zweier (Author), Marie Vincent (Author), Katharina Steindl (Author), Ruxandra Bachmann-Gagescu (Author), Annette Hackenberg (Author), Lucia Abela (Author), Barbara Plecko (Author), Judith Kroell-Seger (Author), Alessandra Baumer (Author), Kazuhiro Yamakawa (Author), Yushi Inoue (Author), Reza Asadollahi (Author), Heinrich Sticht (Author), Hanns Ulrich Zeilhofer (Author), Anita Rauch (Author)
• Format: Book
• Published: BMC, 2019-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Deleterious variants in the voltage-gated sodium channel type 2 (Nav1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (DEE) and intellectual disability (ID) to autism spe...