Excerpt

Researchers used existing medical records and data from the International SCN8A Registry to create individual profiles of people with SCN8A-related disorders. When combined, they revealed common patterns in how the disorder progressed and how symptoms were treated. 

What It’s About

Longitudinal data from 80 different people with SCN8A-related disorders were extracted from electronic records to track how each person’s symptoms changed over time. They looked at seizure types and frequency, EEG reports, and anti-seizure medication use to map each person’s symptom trajectory, then compared these data across participants to look for similarities. 

With this approach, they found that people with either loss-of-function or gain-of-function mutations tended to look similar early in life but became more varied as they aged. The method also highlighted patterns in treatment, showing which medications were most often discontinued and which were most commonly being used when seizure frequency was low.

Why It Matters

The electronic medical records used in this study were collected through a partnership with Citizen Health. The KCNQ2 Cure Alliance has a similar collaboration with Citizen, and by signing up HERE, you can help contribute to future publications like this one. It is encouraging to see this approach already having an impact in other rare disease communities. 

The Quick Term

Longitudinal data: Information that is collected from the same people repeatedly over time, allowing you to track how a disease or disorder progresses. 

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