| 1 | EIEE5, SPTAN1 |
| Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation. | |
| Nonoda Y, Saito Y, Nagai S, Sasaki M, Iwasaki T, Matsumoto N, Ishii M, Saitsu H. | |
| Brain Dev 35(3):280-3. doi: 10.1016/j.braindev.2012.05.002. Epub 2012 May 31. 2013 | |
| 2 | EIEE5, SPTAN1 |
| Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy. | |
| Hamdan FF, Saitsu H, Nishiyama K, Gauthier J, Dobrzeniecka S, Spiegelman D, Lacaille JC, Décarie JC, Matsumoto N, Rouleau GA, Michaud JL. | |
| Eur J Hum Genet 20(7):796-800. doi: 10.1038/ejhg.2011.271. Epub 2012 Jan 18. 2012 | |
| 3 | EIEE5, SPTAN1, WSHQ |
| Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. | |
| Saitsu H, Tohyama J, Kumada T, Egawa K, Hamada K, Okada I, Mizuguchi T, Osaka H, Miyata R, Furukawa T, Haginoya K, Hoshino H, Goto T, Hachiya Y, Yamagata T, Saitoh S, Nagai T, Nishiyama K, Nishimura A, Miyake N, Komada M, Hayashi K, Hirai S, Ogata K, Kato M, Fukuda A, Matsumoto N. | |
| Am J Hum Genet 86(6):881-91. Epub 2010 May 20.PMID: 20493457 2010 | |