A whole-exome sequencing in a four-generation Chinese family with early-onset familial episodic pain and adult-onset familial ET showed the missense mutation p.Arg225Cys (rs138607170) in the sodium voltage-gated channel alpha subunit gene (SCN11A, chromosome 3p22.2, MIM 604385, Gene ID 11280; SCN11A is a transmembrane glycoprotein complex composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits that are responsible for the generation and propagation of action potentials in neurons and muscle. This evidence concerns the gene SCN11A and essential thrombocythemia.