<p>The Epilepsy Genetics Initiative (EGI) was created in 2014 with the goal of amassing a database of clinically-generated exome sequence data for patients with epilepsy who have had diagnostic whole exome sequencing. Most of the subjects enrolled in the study did not receive a secure genetic diagnosis from their initial sequencing. Following participant/family consent, EGI transfers raw data from the respective clinical lab to the Institute for Genomic Medicine at Columbia University Medical Center. The strategy of the initiative has been to carry out systematic reanalysis of data to identify new diagnoses that were not possible or missed at the time of initial sequencing and to aid in novel gene discovery in epilepsy.</p>

Epilepsy Genetics Initiative

2 selected publications including "De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease wi..." (53 citations)

Epilepsy Genetics Initiative

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy