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Read more about the article Disease burden in genetic epilepsies – five things to know

Disease burden in genetic epilepsies – five things to know

  • Post author:Kris Pierce
  • Post published:April 19, 2022
  • Post category:SCN2A Simplified
  • Post comments:0 Comments

Genetic epilepsies and developmental and epileptic encephalopathies (DEEs) significant impact the quality of life of patients.

Continue ReadingDisease burden in genetic epilepsies – five things to know
Read more about the article All our knowledge begins with the antisenses

All our knowledge begins with the antisenses

  • Post author:Kris Pierce
  • Post published:February 9, 2022
  • Post category:SCN2A Simplified
  • Post comments:0 Comments

Up to date summary of antisense oligonucleotides (ASOs) and their role in the treatment of genetic epilepsies.

Continue ReadingAll our knowledge begins with the antisenses
Read more about the article Parent-reported sleep profile of children with early-life epilepsies

Parent-reported sleep profile of children with early-life epilepsies

  • Post author:Kris Pierce
  • Post published:January 26, 2022
  • Post category:SCN2A Simplified
  • Post comments:0 Comments

Sleep problems are very common in children with early-life epilepsy.

Continue ReadingParent-reported sleep profile of children with early-life epilepsies
Read more about the article Precision medicine approaches for infantile-onset developmental and epileptic encephalopathies

Precision medicine approaches for infantile-onset developmental and epileptic encephalopathies

  • Post author:Kris Pierce
  • Post published:January 9, 2022
  • Post category:SCN2A Simplified
  • Post comments:0 Comments

In children presenting with DEEs, genetic diagnoses can be made in over 50% of cases and inform precision medicine approaches to treatment.

Continue ReadingPrecision medicine approaches for infantile-onset developmental and epileptic encephalopathies
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 Natural history studies and clinical trial readiness for genetic developmental and epileptic encephalopathies

Natural history studies and clinical trial readiness for genetic developmental and epileptic encephalopathies

  • Post author:Kris Pierce
  • Post published:December 30, 2021
  • Post category:SCN2A Simplified
  • Post comments:0 Comments

Natural history studies are critical for clinical trial design & registration of new treatments for developmental epileptic encephalopathies.

Continue ReadingNatural history studies and clinical trial readiness for genetic developmental and epileptic encephalopathies
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 ASO for SCN2A gain of function mutation in mice

ASO for SCN2A gain of function mutation in mice

  • Post author:Kris Pierce
  • Post published:December 6, 2021
  • Post category:SCN2A Simplified
  • Post comments:0 Comments

Gene-based therapy using ASO-mediated mRNA was very effective in a mouse model of SCN2A.

Continue ReadingASO for SCN2A gain of function mutation in mice
Read more about the article Impact of genetic epilepsy on parents

Impact of genetic epilepsy on parents

  • Post author:Kris Pierce
  • Post published:October 1, 2021
  • Post category:Uncategorized
  • Post comments:0 Comments

Having a child with genetic epilepsy has a significant impact on parents. Health services need to recognise parent’s needs.

Continue ReadingImpact of genetic epilepsy on parents

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