Epi4K - Gene Discovery in Epilepsy


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Project 1: Epileptic Encephalopathies (Status:  Funded)

500 patients with Infantile Spasms and Lennox-Gastaut Syndrome will be sequenced to identify genetic causes of these syndromes. Additionally, for a subset of patients their parents will also be sequenced to identify cases in which patients harbor a de novo or rare pathogenic mutation.

Project 2: Whole Genome Sequencing in Multiplex Families and Pairs (Status:  Funded)

Whole genome sequencing will be performed to identify genomic variation that influences risk for common forms of idiopathic generalized epilepsy (IGE) and non-acquired focal epilepsy (NAFE). 1,500 pairs of first-degree relatives with either IGE or NAFE and 300 families with at least 3 individuals with IGE or NAFE will be studied.

Project 3: Prognosis (Status:  Planned, funding being pursued)

Patients with NAFE or IGE will be classified as “drug-responsive,” “drug-resistant,” or “highly drug-resistant.” 1,000 patients at the extremes will then be sequenced to identify genetic variants associated with response to medication.

Project 4: CNV Detection (Status:  Funded)

Novel computational algorithms will be developed and applied to the whole exome and whole genome data generated by the SBB core. As a result, novel epilepsy genes and pathways will be identified.


Recurring seizures are also a burden for those living with brain tumors and other disorders such as cerebral palsy, mental retardation, autism, Alzheimer’s disease, stroke, multiple sclerosis, tuberous sclerosis, and a variety of genetic syndromes.


CURE - Citizens United for Research in Epilepsy

Epi4K is supported by NINDS:


1U011NS077274-01 - Administrative Core

1U01NS077276-01 - Phenotyping and Clinical Informatics Core

1U01-NS077303-01 - Sequencing, Biostatistics, and Bioinformatics Core

1U01NS077364-01 - Epileptic Encephalopathies

1 U01 NS077367-01 - Whole Genome Sequencing in Multiplex Families and Pairs

1U01NS077275-01 - CNV Detection