EpilepsyGene

Data submission

If you are an author of a study regarding epilepsy and do not find your mutation data in EpilepsyGene, please feel free to submit your data below. This will be important for our future development.

You may need the format of mutation data:

If the mutation type is insertion, examples like c.51_52insT, c.51_52insGAGA will be helpful;

If the mutation type is deletion, examples like c.13delG, c.92_94delGAC, c.120_123+48del will be helpful;

If the mutation type is single nucleotide variantion (SNV), examples like c.3G>C, c.89-1G>T, c.88+2T>G will be helpful;

If the mutation type is copy number variantion (CNV), examples like 2q22.2-q21.3deletion, 2q24.3-q32.1duplication will be helpful;

Data content
Chromosome
Mutation type
CNV
Gender
Age of onset
Inheritance

Gene symbol:	*
Transcript ID:
Disease name:	*
Mutation data:	*
PubMed ID:	*
Your emaili:	*