18-6-3-5　ⓔ文献

  1. Kalviainen R, Khyuppenen J, et al: Clinical picture of EPMI–Unverricht–Lundborg disease. Epilepsia, 2008; 49: 549–556.

  2. Lehesjoki AE, Eldridge R, et al: Progressive myoclonus epilepsy of Unverricht–Lundborg type: a clinical and molecular genetic study of a family from the United States with four affected sibs. Neurology, 1993; 43: 2384–2386.

  3. Kobayashi K, Hitomi T, et al: Long–term follow–up of cortical hyperrxcitability in Japanese Unverricht–Lundborg disease. Seizure, 2014; 23: 746–750.

  4. 近藤孝之，山門穂高，他：振戦様ミオクローヌスと稀発大発作を認めたUnverricht–Lundborg病の成人例．臨床神経，2009; 49: 43–47.

  5. 和知　学，笹川陸男，他：シスタチンB遺伝子の変異が確認されたUnverricht-Lundborg病の2症例．てんかん研究，1998; 16: 100–108.

  6. Kagitani–Shimono K, Imai K, at al: Unverricht–Lundborg disease with cystatin B gene abnormalities. Pediatr Neurol, 2002; 26: 55–60.

  7. Pennacchio LA, Lehesjoki AE, et al: Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science, 1996; 27: 1731–1734.

  8. Lalioti MD, Scott HS, et al: Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature, 1997; 386: 847–851.

  9. Virtaneva K, D’Amato E, et al: Unstable minisatwllite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nat Genet, 1997; 15: 393–396.

  10. Berkovic SF, Mazarib A, et al: A new clinical and molecular form of Unverricht–Lundborg disease localized by homozygosity mapping. Brain, 2005; 128: 652–658.

  11. Pennacchio LA, Bouley DM, et al: Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B–deficient mice. Nat Genet, 1998; 20: 251–258.

  12. http://www.nanbyou.or.jp

  13. Joensuu T, Lehesjoki AE, et al: Molecular background of EPM1–Unverricht–Lundborg disease. Epilepsia, 2008; 49: 557–563.

  14. Genton P, Gelise P, et al: Lack of efficacy and potential aggravation of myoclonus with lamotrigine in Unverricht–Lundborg disease. Epilepsia, 2006; 47: 2083–2085.

  15. Magaudda A, Ferlazzo E, at al: Unverricht–Lundborg disease, a condition with self–limited progression: long–term follow–up of 20 patients. Epilepsia, 2006; 47: 860–866.