| 1 | KPNA7, SICACCH |
| Autosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation. | |
| Paciorkowski AR, Weisenberg J, Kelley JB, Spencer A, Tuttle E, Ghoneim D, Thio LL, Christian SL, Dobyns WB, Paschal BM. | |
| Eur J Hum Genet 22(5):587-93. doi: 10.1038/ejhg.2013.196. Epub 2013 Sep 18. 2014 | |