SCN1A gene

Known as: NAC1, GEFSP2, SCN1A 
This gene is involved in sodium transport.
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2009
Highly Cited
2009
INTRODUCTION Mutations in the voltage-gated sodium channel SCN1A gene are the main genetic cause of Dravet syndrome (previously… (More)
Is this relevant?
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)
  • table 1
  • figure 1
  • table 2
  • table 3
Is this relevant?
Highly Cited
2007
Highly Cited
2007
PURPOSE SCN1A is the most clinically relevant epilepsy gene, most mutations lead to severe myoclonic epilepsy of infancy (SMEI… (More)
  • table 1
  • figure 1
  • figure 2
Is this relevant?
Review
2005
Review
2005
SCN1A is part of the SCN1A-SCN2A-SCN3A gene cluster on chromosome 2q24 that encodes for alpha pore forming subunits of sodium… (More)
Is this relevant?
Highly Cited
2005
Highly Cited
2005
Although several plant microRNAs (miRNAs) have been shown to play a role in plant development, no phenotype has yet been… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2003
Highly Cited
2003
Association studies are widely seen as the most promising approach for finding polymorphisms that influence genetically complex… (More)
Is this relevant?
Highly Cited
2003
Highly Cited
2003
OBJECTIVES SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy (SMEI). The… (More)
Is this relevant?
Highly Cited
2003
Highly Cited
2003
A group of infant onset epilepsies manifest very frequent generalized tonic-clonic seizures (GTC) intractable to medical therapy… (More)
Is this relevant?
Highly Cited
2002
Highly Cited
2002
To investigate the possible correlation between genotype and phenotype of epilepsy, we analyzed the voltage-gated sodium channel… (More)
Is this relevant?
Highly Cited
2002
Highly Cited
2002
The plant hormone indole-3 acetic acid (IAA or auxin) controls many aspects of plant development, including the production of… (More)
  • figure 1
  • figure 2
  • figure 4
  • figure 3
Is this relevant?