Genotype-phenotype associations in SCN1A-related epilepsies.

@article{Zuberi2011GenotypephenotypeAI,
  title={Genotype-phenotype associations in SCN1A-related epilepsies.},
  author={Sameer M Zuberi and Andreas Brunklaus and Rachael Birch and Eleanor Reavey and Jr Duncan and Glen Forbes},
  journal={Neurology},
  year={2011},
  volume={76 7},
  pages={
          594-600
        }
}
OBJECTIVE Most mutations in SCN1A-related epilepsies are novel and when an infant presents with febrile seizures (FS) it is uncertain if they will have simple FS, FS+, or develop a severe epilepsy such as Dravet syndrome. Our objective was to examine whether the nature of a SCN1A mutation affects the epilepsy phenotype. METHODS We retrospectively evaluated clinical and genetic data from 273 individuals with SCN1A mutations identified in our laboratory and reviewed data from 546 published… CONTINUE READING

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