Key result
First seizure before six months predicts Dravet syndrome in SCN1A carriers with ~83% sensitivity.
Why the study?
What clinical and genetic factors predict progression to Dravet syndrome in infants with SCN1A mutations?
Population
182 SCN1A mutation carriers ascertained after seizure onset, and 18 healthy relatives of mutation carrier…
Design
Cohort
Authors
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In infants with SCN1A mutations, age at seizure onset (specifically within the first 6 months) is a stronger predictor of progression to Dravet syndrome than mutation type.
Observational (n=200)
What clinical and genetic factors predict progression to Dravet syndrome in infants with SCN1A mutations?
In infants with SCN1A mutations, age at seizure onset (specifically within the first 6 months) is a stronger predictor of progression to Dravet syndrome than mutation type.
Cetica et al. (2017) conducted an observational in SCN1A mutations (n=200). Clinical and genetic factors (age at first seizure, mutation type) was evaluated on Progression to Dravet syndrome. Age at first seizure within the first 6 months of life predicted progression to Dravet syndrome in SCN1A mutation carriers with 83.3% sensitivity and 76.6% specificity.
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