Wang AS, Lemire G, VanNoy GE, Austin-Tse C, O’Donnell-Luria A, Kilbane C. DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia. Journal of pediatric neurology : JPN. 2023;21(6):475-478. doi:10.1055/s-0043-1771352.

Achkar CME, Harrer M, Smith L, et al. Characterization of the GABRB2-Associated Neurodevelopmental Disorders. Ann Neurol. 2021;89(3):573-586. doi:10.1002/ana.25985.

Friedman J, Olvera J, Silhavy JL, Gabriel SB, Gleeson JG. Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance. Neurology. 2012;79(9):946-8. doi:10.1212/WNL.0b013e318266fabf.