Skip to content
  • Home
  • About
  • Resources
    • Podcast
    • News
    • Webinars
    • Virtual Conference 2021
      • SCN2A Phenotypes
      • Loss of function gene mutations in SCN2A
      • Collaboration with families
      • Understanding clinical variability for variants in the same gene
      • Praxis SCN2A Programs: An Update
      • SCN2A Research Registry in Simons Searchlight
      • Genetic Information
      • Support for SCN2A and genetic epilepsy families
  • Research
    • Australian
    • International
    • Currently Enrolling
    • SCN2A Simplified
  • Events
  • Contact
Menu
  • Home
  • About
  • Resources
    • Podcast
    • News
    • Webinars
    • Virtual Conference 2021
      • SCN2A Phenotypes
      • Loss of function gene mutations in SCN2A
      • Collaboration with families
      • Understanding clinical variability for variants in the same gene
      • Praxis SCN2A Programs: An Update
      • SCN2A Research Registry in Simons Searchlight
      • Genetic Information
      • Support for SCN2A and genetic epilepsy families
  • Research
    • Australian
    • International
    • Currently Enrolling
    • SCN2A Simplified
  • Events
  • Contact
Donate
Search
Close

epilepsy

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 Transition

Transition

  • Post author:David Cunnington
  • Post published:February 20, 2022
  • Post category:Podcast
  • Post comments:0 Comments

For children with complex needs like developmental epileptic encephalopathies (DEEs) transition to adult care can be challenging.

Continue ReadingTransition
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 Living With Epilepsy

Living With Epilepsy

  • Post author:David Cunnington
  • Post published:January 29, 2022
  • Post category:Podcast
  • Post comments:0 Comments

Torie Robinson's lived experience makes her a powerful advocate for improving care for those with epilepsy.

Continue ReadingLiving With Epilepsy
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
  • 1
  • 2
  • 3
  • 4
  • …
  • 6
  • Go to the next page

Newsletter

Email is required Email is not valid
This field is required
Thanks for your subscription.
Failed to subscribe, please contact admin.

Facebook

Twitter

My Tweets
Facebook-f Twitter Instagram Envelope

© All rights reserved. SCN2A Australia  |  Privacy Policy