lafora disease/seizures

The authors present the case of a patient with Lafora disease proven by skin biopsy, who suffered two occipital seizures recorded on EEG and provoked by intermittent photic stimulation. On the basis of data in the literature and their present experience, the authors suggest the involvement of the

OBJECTIVE The aim of this report is to provide initial evidence that add-on treatment with perampanel might be highly effective in progressive myoclonic epilepsy such as Lafora disease. METHODS We report on a 21-year-old woman suffering from persistent myoclonus and generalized tonic-clonic seizures

Lafora disease is a rare and fatal disease characterized by seizures, progressive cognitive and behavioral deterioration, as well as cerebellar dysfunction. Currently, there is no efficacious treatment that will control the seizures and improve the cognitive decline in this disease. We report a

Lafora disease (LD) represents a fatal form of neurodegenerative disorder characterized by the presence of abnormally large number of polyglucosan bodies-called the Lafora bodies-in neurons and other tissues of the affected patients. The disease is caused by defects in the EPM2A gene coding for a

Lafora disease (LD) is a rare adolescent-onset progressive myoclonic epilepsy caused by loss-of-function mutations either in the EPM2A gene encoding laforin or in the EPM2B gene encoding malin. Mouse models with deletion in the Epm2a or the Epm2b gene show intracellular aggregates of polyglucosans

Lafora disease is one of the rare, most fatal progressive myoclonic epilepsies reported. We present a case of a teenager with intractable seizures and progressive mental decline, diagnosed as Lafora body disease on axillary skin biopsy. He was admitted with status epilepticus with refractory

Introduction: Lafora disease (LD) is a rare form of progressive infantile epilepsy in which rapid neurological deterioration occurs as the disease advances, leading the patients to a vegetative state and then death, usually within the first decade of disease onset. Based on the capacity of

Lafora disease (LD) is the most severe form of Progressive Myoclonus Epilepsy with teenage onset. It has an autosomal recessive mode of inheritance and is almost universally fatal by the second or third decade of life. To date, there is no prevention or cure. In the last decade, with the

To search for new therapies aimed at ameliorating the neurologic symptoms and epilepsy developing in patients with Lafora disease. Lafora disease is caused by loss-of-function mutations in either the EPM2A or EPM2B genes. Epm2a-/- and Epm2b-/- mice display neurologic and behavioral abnormalities

Lafora disease (LD, OMIM 254780) is a rare fatal neurodegenerative disorder that usually occurs during childhood with generalized tonic-clonic seizures, myoclonus, absences, drop attacks, or visual seizures. Unfortunately, at present, available treatments are only palliatives and no curative drugs

Intracellular transport, processing and stability of mRNA play critical roles in the functional physiology of the cell and defects in these processes are thought to underlie the pathogenesis in a number of neurodegenerative disorders. One of the cellular sites that regulate the mRNA half-life is the

Patients affected with progressive myoclonus epilepsy of the Lafora type present during late adolescence with a characteristic EEG pattern and Lafora bodies seen on skin biopsy. The critical region for the Lafora gene has been localised to chromosome 6q24 flanked by the dinucleotide repeat markers

We reviewed 18 EEG studies in four members of a family with the Lafora form of progressive myoclonic epilepsy. Each patient was the product of a consanguinous marriage and presented as a teenager with progressive seizures, myoclonus, dementia, and ataxia, and had biopsy proven disease. The EEG early

We studied biopsy results in a kindred with the Lafora form of progressive myoclonic epilepsy. Four members of a family with known consanguinity presented as teenagers with seizures, myoclonus, dementia, and ataxia. After the diagnosis was established by brain biopsy in the first patient, many

The Lafora type of progressive myoclonus epilepsy is a rare and fatal familial disease characterized by seizures, myoclonus, and dementia. This diagnosis was confirmed in 2 patients by demonstrating the presence of intracytoplasmic polyglucosan bodies, or Lafora bodies, in the peripheral portion of