Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.

@article{Cetica2017ClinicalAG,
  title={Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.},
  author={Valentina Cetica and Sara Chiari and Davide Mei and Elena Parrini and Laura Grisotto and Carla Marini and Daniela Pucatti and Annarita Ferrari and Federico Sicca and Nicola Specchio and Marina Trivisano and Domenica Immacolata Battaglia and Ilaria Contaldo and Nelia Zamponi and Cristina Petrelli and Tiziana Granata and Francesca Ragona and G. Avanzini and Renzo Guerrini},
  journal={Neurology},
  year={2017},
  volume={88 11},
  pages={1037-1044}
}
OBJECTIVE To explore the prognostic value of initial clinical and mutational findings in infants with SCN1A mutations. METHODS Combining sex, age/fever at first seizure, family history of epilepsy, EEG, and mutation type, we analyzed the accuracy of significant associations in predicting Dravet syndrome vs milder outcomes in 182 mutation carriers… CONTINUE READING