| 1 | KIF5A, NEIMY |
| KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy | |
| Rydzanicz M, Jagła M, Kosinska J, Tomasik T, Sobczak A, Pollak A, Herman-Sucharska I, Walczak A, Kwinta P, Płoski R. | |
| Clin Genet. May;91(5):769-773. doi: 10.1111/cge.12831. Epub 2016 Sep 16. 2017 | |
| 2 | KIF5A, NEIMY |
| KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction | |
| Duis J, Dean S, Applegate C, Harper A, Xiao R, He W, Dollar JD, Sun LR, Waberski MB, Crawford TO, Hamosh A, Stafstrom CE. | |
| Ann Neurol. Oct;80(4):633-7. doi: 10.1002/ana.24744. Epub 2016 Aug 24. 2016 | |