Two Cases of Lafora Disease Diagnosed By Genetical Tests

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Bican Demir A. , Hakki Bora I.

EPILEPSI, vol.27, no.4, pp.249-252, 2021 (Journal Indexed in ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 27 Issue: 4
  • Publication Date: 2021
  • Doi Number: 10.14744/epilepsi.2021.28863
  • Title of Journal : EPILEPSI
  • Page Numbers: pp.249-252
  • Keywords: Epilepsy, genetics, Lafora disease, GENOTYPE-PHENOTYPE CORRELATIONS, MYOCLONUS


Epilepsy develops related to a complex genetic heredity as many diseases in society. Lafora disease (LD) is an autosomal recessive inheritance. It is localized at EPM2A gen 6q23-25 and encodes tyrosine phosphatase (Laforin protein). About 80% of the patients have mutations in this gene. In a case of LD, rapid and progressive dementia and frequent occipital seizures are clinical symptoms. For definitive diagnosis, through genetical study, EPM2A and EPM2B genes should be analyzed. A male at the age of 18, with a medical history of meningitis and seizures with high temperature. Starting from the age of 10, there have been symptoms such as generalized tonic-clonic (GTC) seizures, startles in the whole body, and forgetfulness. In genetical tests, homozygote deletion of adenine nucleotide in the position of 468 at codon 156 and guanine nucleotide in the position of 469 at codon 157 is found. In other words, there has been dinucleotide deletion which is compatible with LD. A 20-year-old male was examined because of such symptoms as forgetfulness, myoclonia, hallucinations, and GTC clonic seizures. He was diagnosed with LD because of the heterozygote transformation of CCC to CTC at codon 111. Even though genetic disorders have many different reasons, it is advised that every society should have their own advanced studies on gene mutation. In Turkish cases, both of these genes were found mutated, each in different various studies.