A genetic resource for genes and mutations related to epilepsy

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SNV	Options to filter
	Gene symbol	(e.g. SCN1A)
	Gene region	exonicintronic5-UTR3-UTRsplicingintergenicupstreamdownstreamAll
	Effect	nonsynonymoussynonymousstoplossstopgainunknownAll
	Inheritance	de novomaternalpaternalfamilialunknownAll

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InDel	Options to filter
	Gene symbol	(e.g. SCN1A)
	Gene region	exonicintronic5-UTR3-UTRsplicingintergenicupstreamdownstreamAll
	Mutation type	deletioninsertionAll
	Inheritance	de novomaternalpaternalfamilialunknownAll

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CNV	Options to filter
	De novo	yesnoAll
	Rare	yesnoAll
	Recurrent	yesnoAll
	Locus	(e.g. 1q21.1)

• Data content
• Chromosome
• Mutation type
• CNV
• Gender
• Age of onset
• Inheritance

Copyright© 2014, EpilepsyGene Team | All rights researved
Last updated: Jul 6, 2014