Abstract：
:Lafora disease (LD) is an autosomal recessive inherited form of progressive myoclonic epilepsy with dementia and ataxia, usually presenting in the second decade of life and inexorably progressing until death. Neuropathological hallmarks are Lafora bodies, intracytoplasmic inclusions that can be found in neurons and in other tissues. LD gene (EPM2A), mapping on chromosome 6, encodes for a tyrosine phosphatase protein called laforin. However, up to 20% cases of LD are not genetically linked to chromosome 6. We report two sisters affected from bioptically diagnosed LD but without evidence of EPM2A mutation. Although familial cases of LD are already reported in literature, our observation leads to some considerations on clinical-electrophysiological evolution as well as to remark the genetic heterogeneity of this condition. In addition, we report the good effect of the Levetiracetam for the treatment of myoclonus in these patients, also demonstrated by the electrophysiological findings.
journal_name
Clin Neurol Neurosurgjournal_title
Clinical neurology and neurosurgeryauthors
Boccella P,Striano P,Zara F,Barbieri F,Sarappa C,Vacca G,de Falco FA,Striano Sdoi
10.1016/j.clineuro.2003.07.003keywords:
subject
Has Abstractpub_date
2003-12-01 00:00:00pages
55-9issue
1eissn
0303-8467issn
1872-6968pii
S0303846703000775journal_volume
106pub_type
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journal_title：Clinical neurology and neurosurgery
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journal_title：Clinical neurology and neurosurgery
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journal_title：Clinical neurology and neurosurgery
pub_type： 杂志文章,评审
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更新日期：2005-04-01 00:00:00
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pub_type： 杂志文章
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更新日期：1983-01-01 00:00:00
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journal_title：Clinical neurology and neurosurgery
pub_type： 杂志文章
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更新日期：2016-11-01 00:00:00
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journal_title：Clinical neurology and neurosurgery
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journal_title：Clinical neurology and neurosurgery
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journal_title：Clinical neurology and neurosurgery
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journal_title：Clinical neurology and neurosurgery
pub_type： 杂志文章,评审
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更新日期：2015-09-01 00:00:00
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journal_title：Clinical neurology and neurosurgery
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journal_title：Clinical neurology and neurosurgery
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journal_title：Clinical neurology and neurosurgery
pub_type： 杂志文章,评审
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更新日期：2013-02-01 00:00:00
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journal_title：Clinical neurology and neurosurgery
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journal_title：Clinical neurology and neurosurgery
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更新日期：2013-12-01 00:00:00
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journal_title：Clinical neurology and neurosurgery
pub_type： 杂志文章
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更新日期：2013-07-01 00:00:00
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journal_title：Clinical neurology and neurosurgery
pub_type： 杂志文章
doi：10.1016/0303-8467(92)90049-9
更新日期：1992-01-01 00:00:00
