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Disease: Precocious myoclonic encephalopathy

  • Berardinelli-Seip syndrome and progressive myoclonus epilepsy
  • Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy
  • Electroclinical pattern in the transition from West to Lennox-Gastaut syndrome
  • Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene
  • Gelastic seizures and the hypothalamic hamartoma syndrome: Epileptogenesis beyond the lesion?
  • Precocious loss of physiological sleep in a case of Creutzfeldt Jakob disease: a serial polygraphic study
  • Refractory tonic-myoclonic status epilepticus with catamenial recurrence in epilepsy with myoclonic atonic seizures: A case report
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About CheckOrphan

CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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