title: Are c.436G>A mutations less severe forms of Lafora disease? A case report.
abstract: Lafora disease is a form of progressive myoclonic epilepsy with autosomal recessive transmission. Two genes have been identified so far: EPM2A and NHLRC1, and a third gene, concerning a pediatric onset subform, has been recently proposed. We report the case of a 23-year-old woman of Turkish origin with an unusual disease course. Clinical onset was at the age of 19 years with tonic-clonic seizures, followed by cognitive impairment; EEG was in favor of Lafora disease, and the mutation c.436G>A (a missense mutation substituting aspartic acid in asparagine) in the NHLRC1 gene confirmed this diagnosis. After 5 years of evolution, the patient only has moderate cognitive impairment. Some NHLRC1 mutations, particularly c.436G>A, are associated with a slower clinical course, but there are conflicting data in the literature. This case strengthens the hypothesis that the c.436G>A mutation in the NHLRC1 gene leads to less severe phenotypes and late-onset disease.
authors: Service de Neurologie, CHU de Tours, INSERM U 930, France.
authors: Hélène-Marie
authors: HM
authors: Lanoiselée
authors: Centre Saint Paul, Marseille, France ; Institut de Neurobiologie de la Méditerranée (INMED), INSERM UMR901, Université de la Méditerranée, Marseille, France.
authors: Pierre
authors: P
authors: Genton
authors: Service de Génétique, Hospices Civils de Lyon, Lyon, France ; Université Claude Bernard Lyon 1, Lyon, France.
authors: Gaetan
authors: G
authors: Lesca
authors: Service de Neurologie, CHU de Tours, INSERM U 930, France.
authors: Florence
authors: F
authors: Brault
authors: Service de Neurologie, CHU de Tours, INSERM U 930, France.
authors: Bertrand
authors: B
authors: De Toffol
keywords: EPM2A; EPM2B; Lafora disease; NHLRC1; Progressive myoclonic epilepsy