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Myoclonic epilepsy of Lafora
Lafora disease

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We were unfortunately unable to download the information for this disease from OMIM.

Prevalence of clinical parameters (%)

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Seizures nervous 94 % 15781812 2013-04-09
Mental retardation nervous 82 % 15781812 2013-04-09
Gait disturbances nervous 47 % 15781812 2013-04-09
Hepatopathy digestive 6 % 15781812 2013-04-09

List of references:

Lafora disease due to EPM2B mutations: a clinical and genetic study.
C Gómez-Abad, P Gómez-Garre, E Gutiérrez-Delicado, S Saygi, R Michelucci, C A Tassinari, S Rodríguez de Córdoba, J M Serratosa,

To study EPM2B gene mutations and genotype-phenotype correlations in patients with Lafora disease.

Neurology - Mar 2005

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