Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.


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Krüger J., Schubert J., Kegele J., Labalme A., Mao M., Heighway J., ...More

EBioMedicine, vol.84, pp.104244, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 84
  • Publication Date: 2022
  • Doi Number: 10.1016/j.ebiom.2022.104244
  • Journal Name: EBioMedicine
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE, Directory of Open Access Journals
  • Page Numbers: pp.104244
  • Keywords: KCNQ5, Genetic generalized epilepsy, Exome sequencing, Loss -of -function, Patch -clamp
  • Çukurova University Affiliated: Yes