Investigators from the University of British Columbia, Great Ormond Street Hospital for Children, and the National Hospital reported their findings on neurotransmitter deficiencies in two patients with mutations in voltage-gated sodium genes (SCN2A and SCN8A) discovered by whole exome sequencing.
Pediatric neurology briefs 31.3 (2017): 7-7.
https://europepmc.org/articles/pmc5681457