TMEM151A phenotypic spectrum includes paroxysmal kinesigenic dyskinesia with infantile convulsions.

In a three-generation family, five individuals exhibited the typical phenotype of paroxysmal kinesigenic dyskinesia (PKD). Intriguingly, one of the individuals also showed benign familial infantile convulsions (BFIC) at age 4 months and spontaneously resolved at age 18 months. At age 12, she developed a typical PKD, and was gradually relieved at age 21. Therefore, the clinical phenotype was consistent with PKD with infantile convulsions (PKD/IC). Whole exome sequence and co-segregation analysis revealed a novel heterozygous variant c.1085A > G in the TMEM151A gene. Our study suggests that the TMEM151A gene may be associated with the disease spectrum of PKD-PKD/IC-BFIC.