A spontaneous missense mutation in the chromodomain helicase DNA‐binding protein 8 (<i>CHD8</i>) gene: a novel association with congenital myasthenic syndrome

Abstract

We hypothesize CHD8 to have a role in the maintenance of the structural integrity and function of the NMJ. Both patients benefited from treatment with 3,4-diaminopyridine, a reversible blocker of voltage-gated potassium channels at the nerve terminal that prolongs the action potential and increases acetylcholine release.