Infantile Severe Myoclonic Epilepsy

Known as: Severe Myoclonic Epilepsy, Infantile, Syndromes, Dravet, Severe Infantile Myoclonic Epilepsy 
A severe form of epilepsy that presents in early childhood and is characterized by frequent, prolonged febrile or myoclonic seizures that may… (More)
National Institutes of Health

Papers overview

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Review
2013
Review
2013
Severe myoclonic epilepsy in infancy (SMEI) is a rare disease, characterized by febrile and afebrile, generalized and unilateral… (More)
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Highly Cited
2007
Highly Cited
2007
The mammalian genome contains four voltage-gated sodium channel genes that are primarily expressed in the central nervous system… (More)
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Highly Cited
2007
Highly Cited
2007
The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland… (More)
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Highly Cited
2003
Highly Cited
2003
BACKGROUND Mutations in SCN1A, the gene encoding the alpha1 subunit of the sodium channel, have been found in severe myoclonic… (More)
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Highly Cited
2003
Highly Cited
2003
OBJECTIVES SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy (SMEI). The… (More)
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Highly Cited
2003
Highly Cited
2003
Severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) is a rare disorder occurring in young children often without a… (More)
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Highly Cited
2002
Highly Cited
2002
Recent findings from studies of two families have shown that mutations in the GABA(A)-receptor gamma2 subunit are associated with… (More)
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Highly Cited
2001
Highly Cited
2001
Severe myoclonic epilepsy of infancy (SMEI) is a rare disorder that occurs in isolated patients. The disease is characterized by… (More)
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Highly Cited
1998
Highly Cited
1998
PURPOSE In severe myoclonic epilepsy of infancy (SME), multiple drug-resistant focal and generalized seizure types occur… (More)
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