Updated: Apr 25, 2021
SCN2A-related disorders are caused by pathogenic variants in the SCN2A gene on chromosome 2. The SCN2A gene encodes the sodium ion channel subunit protein Nav1.2, which is important for the movement of sodium ions across the cell membrane. Nav1.2 is expressed predominantly in the central nervous system, where it has a major role in the generation of action potentials. It is the main sodium channel in excitatory neurons in early life, before this role is assumed by the Nav1.6 protein (encoded by the SCN8A gene) in late infancy or early childhood. SCN2A-related disorders belong to a group of conditions that impact on ion channel function, collectively known as channelopathies.SCN2A’s first association with disease was found in 2002 (BFNIS). The first description of a more severe phenotype came later and was described with a stronger association with severe disorder from 2013 onwards.
SCN2A Clinical Features
Pathogenic variants in the SCN2A gene cause a number of neurodevelopmental disorders, with a broad spectrum of severity. Epilepsy, Developmental Disability (DD), Intellectual Disability (ID), Autism Spectrum Disorder (ASD), and movement disorders are the most frequent, albeit not universal, symptoms. There are distinct patterns of clinical features (phenotypes), broadly distinguished by the absence or presence of epilepsy, and by the epilepsy type.
Get to Know SCN2A Australia/NZ/Asia...
Our mission is to WORK LOCALLY, CONNECT GLOBALLY.
Connect families in our region by providing information and resources.
Link with and work directly with researchers, clinicians and professional bodies.
Work with researchers around the globe to ensure families in our region have access to research projects and any potential treatments.
Work with other SCN2A bodies to co-ordinate activities world wide, including awareness raising.
Raise awareness of SCN2A with both with the public and health professionals
Promote fundraising for SCN2A
Work with relevant government departments and rare disease entities ensuring our work aligns with providing access to treatments when they become available.
I am especially proud of ...
Hard to say one thing but we have developed an educational platform for SCN2A families around the globe which includes webinars and a podcast, called SCN2A Insights. The other aspect I am personally proud of is the global team we work with. Mentoring others to represent and advocate for families in their region has been particularly rewarding. The collaborative approach we have means the outcomes are expanded and awareness is driven further. Finally, the work we do with Genetic Epilepsy Team Australia (GETA) as a collective gene agnostic group. As a Co-Founder, we run an annual conference which has grown every year and is respected globally. We highlight the work in our region as well as highlighting global leaders in DEE's.
Excited to REN because...
Part of our mission is to collaborate locally AND globally. There is economy of scales and working together ensures we can expedite results not only for our families but for other genes who follow in our footsteps.
My journey and motivation...
Our son, Will, is now 18yrs old. He was not diagnosed with SCN2A until 14 yrs old. Until this time he sat in the undiagnosed space and we faced more than one misdiagnosis including a degenerative condition where he was sent home for palliative care. Will spent many years battling uncontrolled seizures and had regular life threatening episodes related to SCN2A. Due to not knowing SCN2A was the cause, many anti-epilepsy drugs were trialed. A diagnosis would have streamlined medications and potentially meant better long term outcomes for him. Over time his health settled and now the major challenges he faces are via his intellectual disability, autistic tendencies and transitioning to the adult world. Co-morbidities of SCN2A include: epilepsy, intellectual disability, autism spectrum disorder, gastro-intestinal issues, and movement disorders.