Dravet Syndrome: Seizure Control and Gait in Adults with Different <i>SCN1A</i> Mutations (P2.188)
Bibliographic record
Abstract
OBJECTIVE/BACKGROUND: Most cases of Dravet syndrome (DS) are caused by SCN1A gene mutations. This study aimed to correlate different types of SCN1A mutations and seizure control, frequency of convulsive status epilepticus (cSE), and the presence of crouch gait in adult patients. DESIGN/METHODS: Chart review and physical examination were completed in 10 adults with DS caused by SCN1A. Mutations were divided in 4 different groups based on location or effect on the gene product. Four SCN1A mutations have not been previously described. Greater than 90% seizure reduction was observed in 6/7 patients with missense mutations in the pore forming region (PFR) of the Nav1.1 protein (group A) and nonsense mutations (group B). One patient with a splice-site mutation (group C) and another with a mutation outside the PFR (group D) stopped having seizures. cSE after the age of 19 years was observed in only 1 patient. Crouch gait was observed in 5/7 patients from groups A and B. RESULTS: This study shows that seizure control improves and cSE become less frequent in adult DS, independently of their SCN1A mutation type. Complete seizure freedom was seen in 2 patients (groups C and D). Finally, crouch gait was observed in 50% of adults. CONCLUSIONS: Although no definite statistical correlations could be drawn due to the small number of patients, it is interesting to note that crouch gait was only observed in those patients with SCN1A non-sense mutations or mutations in the PRF. Future studies with larger cohorts will be required to confirm this later finding.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".