GA Patino, LRF Claes, LF Lopez-Santiago… - Journal of …, 2009 - Soc Neuroscience
Dravet syndrome (also called severe myoclonic epilepsy of infancy) is one of the most
severe forms of childhood epilepsy. Most patients have heterozygous mutations in SCN1A,
encoding voltage-gated sodium channel Na v 1.1 α subunits. Sodium channels are
modulated by β1 subunits, encoded by SCN1B, a gene also linked to epilepsy. Here we
report the first patient with Dravet syndrome associated with a recessive mutation in SCN1B
(p. R125C). Biochemical characterization of p. R125C in a heterologous system …