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GTR Home > Conditions/Phenotypes > Myoclonic epilepsy of Lafora 2

Myoclonic epilepsy of Lafora 2

Synonyms
Epilepsy, progressive myoclonic, 2b; LAFORA DISEASE 2

Summary

Excerpted from the GeneReview: Progressive Myoclonus Epilepsy, Lafora Type
Progressive myoclonus epilepsy, Lafora type (also known as Lafora disease [LD]) is characterized by focal occipital seizures presenting as transient blindness or visual hallucinations and fragmentary, symmetric, or generalized myoclonus beginning in previously healthy individuals at age eight to 19 years (peak 14-16 years). Generalized tonic-clonic seizures, atypical absence seizures, atonic seizures, and focal seizures with impaired awareness may occur. The course of the disease is characterized by increasing frequency and intractability of seizures. Status epilepticus with any of the seizure types is common. Cognitive decline becomes apparent at or soon after the onset of seizures. Dysarthria and ataxia appear early while spasticity appears late. Emotional disturbance and confusion are common in the early stages of the disease and are followed by dementia. Most affected individuals die within ten years of onset, usually from status epilepticus or from complications related to nervous system degeneration.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Anna C Jansen
Eva Andermann
view full author information

Available tests

5 tests are in the database for this condition.

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Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EPM2A, EPM2B, MALIN, MELF2, bA204B7.2, NHLRC1
    Summary: NHL repeat containing E3 ubiquitin protein ligase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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