EpiGene Database 2018-05-16T22:03:10+00:00

EpiGene database

Research in epilepsy genetics constantly brings new knowledge to the field. EpiGene database encompasses a comprehensive and up-to-date compendium of human genes associated with monogenic diseases involving epilepsy or seizures. It is intended to serve for both clinicians to help with diagnostic investigations and researchers as a groundwork for further studies.

EpiGene database contains:

  • human genes associated with monogenic diseases involving epilepsy or seizures

  • *phenotypes of human monogenic diseases involving epilepsy or seizures curated with HPO identifiers

  • *OMIM reference catalogue numbers for genes and phenotypes

  • *tools for search according to gene, symptom/sign, HPO identifier or OMIM reference catalogue number

Construction and updating of EpiGene database
[EpiGene database was constructed in a kind collaboration between Department of Human and Medical Genetics, Centre for Medical Genetics, Vilnius University (Vilnius, Lithuania) and Clinical Institute for Medical Genetics, University Medical Centre Ljubljana (Ljubljana, Slovenia).

Content of EpiGene database is constantly updated with manual annotations as new scientific literature is published.

EpiGene Database