A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome

@inproceedings{Singh2009ARO,
  title={A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome},
  author={Nanda A. Singh and Chris M Pappas and Eirik Dahle and Lieve R. F. Claes and Timothy H. Pruess and Peter de Jonghe and Joel Thompson and Missy Dixon and Christina A. Gurnett and Andy P. Peiffer and Henry S White and Francis M. Filloux and Mark F. Leppert},
  booktitle={PLoS genetics},
  year={2009}
}
A follow-up study of a large Utah family with significant linkage to chromosome 2q24 led us to identify a new febrile seizure (FS) gene, SCN9A encoding Na(v)1.7. In 21 affected members, we uncovered a potential mutation in a highly conserved amino acid, p.N641Y, in the large cytoplasmic loop between transmembrane domains I and II that was absent from 586 ethnically matched population control chromosomes. To establish a functional role for this mutation in seizure susceptibility, we introduced… CONTINUE READING
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