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Whole genome and whole exome sequencing of epilaptic patients

In this project, we aim to identify genetic changes that predispose to epilepsy and those that predict the response to various anti-epileptic drugs. We sequenced whole genomes and whole exomes of epileptic individuals with different range of response to anti-epileptic drugs, and their relatives.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001004062 Illumina HiSeq 2500 198
Publications Citations
Global characterization of copy number variants in epilepsy patients from whole genome sequencing.
PLoS Genet 14: 2018 e1007285
Unraveling the role of non-coding rare variants in epilepsy.
PLoS One 18: 2023 e0291935