SEARCH

SEARCH BY CITATION

References

  • 1
    Berkovic SF. Progressive myoclonus epilepsies. In: EngelJJr, PedleyTA, eds. Epilepsy: a comprehensive textbook. 2nd ed. Philadelphia: Lippincott-Raven, 2008: 25252535.
  • 2
    Kälviäinen R, Khyuppenen J, Koskenkorva P, et al. Clinical picture of EPM1-Unverricht-Lundborg disease. Epilepsia 2008; 49: 549556.
  • 3
    Lehesjoki AE. Molecular background of progressive myoclonus epilepsy. EMBO J 2003; 22: 34733478.
  • 4
    Bassuk AG, Wallace RH, Buhr A, et al. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet 2008; 83: 572581.
  • 5
    Tassinari CA, Michelucci R, Lehesjoki AE, et al. Unverricht-Lundborg phenotype not linked to EPM1 gene in Italian families: genetic heterogeneity or new disease entities? Epilepsia 1996; 37( Suppl 4): 28.
  • 6
    Andermann E, Andermann F, Carpenter S. et al. Action myoclonus-renal failure syndrome: a previously unrecognized neurological disorder unmasked by advances in nephrology. In: FahnS, MarsdenCD, Van WoertMH, eds. Myoclonus. Advances in Neurology, vol. 43. New York: Raven Press, 1986: 87103.
  • 7
    Badhwar A, Berkovic SF, Dowling J, et al. Action myoclonus-renal failure syndrome: characterisation of a unique cerebro-renal disorder. Brain 2004; 127: 21732182.
  • 8
    Berkovic SF, Dibbens LM, Oshlack A, et al. Array based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet 2008; 82: 673684.
  • 9
    Virtaneva K, D'Amato E, Miao J, et al. Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy type, EPM1. Nat Genet 1997; 15: 393396.
  • 10
    Joensuu T, Kuronen M, Alakurtti K, et al. Cystatin B: mutation detection, alternative splicing and expression in progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1) patients. Eur J Hum Genet 2007; 15: 185193.
  • 11
    Balreira A, Gaspar P, Caiola D, et al. A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. Hum Mol Genet 2008; 17: 22382243.
  • 12
    Genton P, Michelucci R, Tassinari CA, Roger J. The Ramsay Hunt syndrome revisited: Mediterranean myoclonus versus mitochondrial encephalomyopathy with ragged-red fibers and Baltic myoclonus. Acta Neurol Scand 1990; 81: 815.
  • 13
    Magaudda A, Ferlazzo E, Nguyen VH, Genton P. Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients. Epilepsia 2006; 47: 860866.
  • 14
    Dardis A, Filocamo M, Grossi S, et al. Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme. Mol Genet Metab 2009; May 3 [Epub ahead of print].