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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).

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

EpiGene database in numbers (updated August, 2016):
#880 genes
#880 human diseases
#373 inherited metabolic diseases with key metabolic tests/metabolites
#94 treatable inherited metabolic diseases
#97 Pubmed reference numbers

EpiGene database

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