Mutations in SCN3A cause early infantile epileptic encephalopathy.
Tariq ZamanIngo HelbigIvana Babić BožovićSuzanne D DeBrosseA Christina BergqvistKimberly WallisLivija MedneAleš MaverBorut PeterlinKatherine L HelbigXiaohong ZhangEthan M GoldbergPublished in: Annals of neurology (2018)
These findings establish SCN3A as a new gene for infantile epileptic encephalopathy and suggest a potential pharmacologic intervention. These findings also reinforce the role of Nav1.3 as an important regulator of neuronal excitability in the developing brain, while providing additional insight into mechanisms of slow inactivation of Nav1.3. Ann Neurol 2018;83:703-717.