myoclonic-atonic epilepsy

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Disease Overview

An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has material basis in heterozygous mutation in the SLC6A1 gene on chromosome 3p25.


Synonyms

  • MAE
  • Myoclonic Atonic Epilepsy
  • myoclonic-atonic epilepsyMAE
  • Myoclonic Atonic Epilepsy
  • myoclonic-atonic epilepsy

GeneReviews

GeneReviews has an article on this condition covering diagnosis, management, and inheritance. Each article is written by one or more experts on the specific disease and is reviewed by other specialists. The article contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. The GeneReviews database is managed by the University of Washington.

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