A Point Mutation in SCN1A 5′ Genomic Region Decreases the Promoter Activity and Is Associated with Mild Epilepsy and Seizure Aggravation Induced by Antiepileptic Drug

@article{Gao2016APM,
  title={A Point Mutation in SCN1A 5′ Genomic Region Decreases the Promoter Activity and Is Associated with Mild Epilepsy and Seizure Aggravation Induced by Antiepileptic Drug},
  author={Qu-Wen Gao and Li-Dong Hua and Jie Wang and Cui-Xia Fan and Wei-yi Deng and Bin Li and Wen-Jun Bian and Chuan-Xing Shao and Na He and Peng Zhou and Wei-Ping Liao and Yi-Wu Shi},
  journal={Molecular Neurobiology},
  year={2016},
  volume={54},
  pages={2428-2434}
}
The SCN1A gene with 1274 point mutations in the coding regions or genomic rearrangements is the most clinically relevant epilepsy gene. Recent studies have demonstrated that variations in the noncoding regions are potentially associated with epilepsies, but no distinct mutation has been reported. We sequenced the 5′ upstream region of SCN1A in 166 patients with epilepsy and febrile seizures who were negative for point mutations in the coding regions or genomic rearrangements. A heterozygous… CONTINUE READING