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Myoclonic Astatic Epilepsy

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February 6, 2015

Doose syndrome, or myoclonic astatic epilepsy, is generalized epilepsy first described by Herman Doose in 1970. Seizure onset is typically between the ages of two to five years of age, and seizure types can include absence, tonic, tonic-clonic, in addition to myoclonic and atonic [1]. Treatment response and clinical courses vary, making prognosis difficult. Early on in presentation, the diagnosis may be difficult to distinguish from Lennox-Gastaut syndrome and other myoclonic epilepsies in early childhood, often requiring video-EEG monitoring for precise seizure classification. Genetic mutations in SCN1A, SCN1B, and GABRG2 have been identified in familial forms of myoclonic-astatic epilepsy, whereas SLC2A1 has been identified in few sporadic cases [2]. Ongoing investigations aim to elucidate additional genetic associations.

References

  1. Oguni H, Fukuyama Y, Tanaka T, et al. Myoclonic-astatic epilepsy of early childhood – clinical and EEG analysis of myoclonic-astatic seizures, and discussion on the nosology of the syndrome. Brain Dev 2001; 23: 757-764.
  2. Tang S and Pal DK. Dissecting the genetic basis of myoclonic-astatic epilepsy.  Epilepsia 2012; 53: 1303-1313.

Submitted by Dr. Adam Numis

Dr. Numis is a member of the Resident and Fellow Section of Neurology.

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