I’ve had many parents inform me that their child has been diagnosed with the genetic variance SCN1A. The parents also report that subsequent to receiving the ‘news’ neurologists report that other than medication, there’s not much that can be done. Yet, in the research I’ve reviewed it is stated that SCN1A is associated with many individuals diagnosed with Dravet Syndrome, that SCN1A is often over-stated and is often found in healthy individuals and lastly, that those individuals that have Dravet have stopped having seizures with dietary interventions. This research denounces that SCN1A is the cause of epilepsy and that nothing can be done.
Here’s what I’ve reviewed. In this journal , “Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients” it was discovered that 228 patients were shown to have the genetic variance SCN1A. This is a significant association that shows that 68% of this population that is diagnosed with Dravet Syndrome, also have the SCN1A gene.
But in this journal, Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes, the alleles of the SCN1A gene mutation vary and although may be stated as ‘pathogenic to the cause of epilepsy’ the researchers argue that this is not the case.
Based on our results, we assume that a significant fraction of patients diagnosed with pathogenic SCN1A mutations may actually not carry an SCN1A variant of relevance.
[In other words, SCN1A being a cause of epilepsy, is being overstated].
They also state further
In order to draw a definitive conclusion about pathogenicity for variants in common epilepsy syndromes, which are also present in healthy individuals, functional studies are mandatory”.
Lastly, in the Study “Nonpharmacologic treatments of Dravet syndrome: Focus on the ketogenic diet”, the ketogenic diet has been shown to be effective in stopping seizures in children diagnosed with Dravet Syndrome (which is strongly associated with SCN1A mutation) and even significantly reducing seizure activity.
One year after initiating the diet, the EEG abnormalities had improved in all 16 patients, especially in those who became seizure free and those who achieved a 75–99% decrease in their seizures.
In summary, these journals suggest that the SCN1A may not be a correct ‘root cause’ for developing a seizure disorder and is not indicative of failure or success.
The ketogenic diet is the therapeutic intervention, that is diet-related, that is mostly studied. However, no bio-individuality is considered when referencing these journals. The Functional Diagnostic approach is critical to look at individuality and identify healing opportunities because there is not one diet/diagnosis/intervention that is suited for everyone.
Bringing much light,
Lynn
