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International research

Read more about the article Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders

  • Post author:Kris Pierce
  • Post published:December 31, 2021
  • Post category:SCN2A Simplified
  • Post comments:0 Comments

Using computational analysis common symptoms for 5 phenotypes of SCN2A were found. The model also predicted gain & loss of function variants.

Continue ReadingComputational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders
Read more about the article SCN2A severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors

SCN2A severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors

  • Post author:Kris Pierce
  • Post published:December 22, 2021
  • Post category:SCN2A Simplified
  • Post comments:0 Comments

This study showed a direct relationship between autism behaviour and SCN2A loss of function mutation in a mouse model.

Continue ReadingSCN2A severe hypomorphic mutation decreases excitatory synaptic input and causes autism-associated behaviors
Read more about the article Generation and basic characterization of a gene-trap knockout mouse model of SCN2A

Generation and basic characterization of a gene-trap knockout mouse model of SCN2A

  • Post author:Kris Pierce
  • Post published:December 8, 2021
  • Post category:SCN2A Simplified
  • Post comments:0 Comments

This study found behaviour abnormalities in SCN2A mouse models that can be used to assess the effectiveness of new treatments.

Continue ReadingGeneration and basic characterization of a gene-trap knockout mouse model of SCN2A
Read more about the article SCN2A International Natural History Study

SCN2A International Natural History Study

  • Post author:Kris Pierce
  • Post published:July 18, 2021
  • Post category:Uncategorized
  • Post comments:0 Comments

Help understand SCN2A by enrolling in this natural history study which is open to participants from any country.

Continue ReadingSCN2A International Natural History Study

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