Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?

@article{Lim2015EpilepsyPA,
  title={Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?},
  author={Byung Chan Lim and Hee Hwang and Hunmin Kim and Jong Hee Chae and Ji Eun Choi and Ki Joong Kim and Yong Seung Hwang and Mi-sun Yum and Tae Sung Ko},
  journal={Epilepsy research},
  year={2015},
  volume={109},
  pages={34-9}
}
The deletion of a sodium channel gene cluster located on chromosome 2q24.3 is associated with variable epilepsy phenotypes, including Dravet syndrome and migrating partial seizures of infancy. Although SCN1A is considered as the major contributor to the epilepsy phenotype, the role of other sodium channel genes that map within this cluster has not been delineated. We presented five new cases with a chromosome 2q24.3 deletion involving SCN1A and investigated their epilepsy phenotype in relation… CONTINUE READING