Electro-clinical features and management of the late stage of Lafora disease.

ABSTRACT:

Purpose

The aim of this study was to elucidate the electro-clinical features and management of the late stage of Lafora disease (LD).

Methods

We investigated the electro-clinical data and medical complications of three LD patients with mutations in EPM2A and two in NHLRC1 genes during the LD late stage.

Results

The late stage emerged after a mean period of 7 ± 1.41 years from the onset of the disease. All patients developed gait ataxia becoming bedbound with severe dementia. Pluri-monthly and drug-resistant myoclonic seizures, and myoclonic absence and tonic-clonic seizures were associated with daily/pluri-daily myoclonus, while the EEG/polygraphic findings showed diffusely slow activity with epileptiform abnormalities, often correlated with myoclonic je

SUBMITTER: d'Orsi G 

PROVIDER: S-EPMC9580008 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature