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.
Keywords: Channelopathy; Dopamine; Nav1.2; Nav1.6; SCN2A; SCN8A; Seizures; Serotonin; Therapy.