The neonatal SCN2A mutant channel mimics adult channel properties

J Gen Physiol. 2020 May 4;152(5):e201912468. doi: 10.1085/jgp.201912468.

Abstract

SCN2A mutations can cause early-onset epilepsy. Thompson et al. examined these human mutations in neonatal versus adult channel isoforms.

Publication types

  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Adult
  • Alternative Splicing*
  • Epilepsy*
  • Humans
  • Infant, Newborn
  • NAV1.2 Voltage-Gated Sodium Channel

Substances

  • NAV1.2 Voltage-Gated Sodium Channel
  • SCN2A protein, human