Epilepsy Genetics Initiative (EGI)

Overview

About this study

The purpose of this study is to identify genetic causes for epilepsy (sometimes referred to as seizure disorders) and associated co-morbidities such as developmental delay (DD), intellectual disability (ID), and other neurological or neurodevelopmental disorders. We are collecting genetic and clinical information from individuals who have undergone exome/genome sequencing as part of their regular medical care or as part of a research study.

Participation eligibility

Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.

Inclusion Criteria:

All persons who carry a diagnosis of epilepsy/seizures and are having clinical sequencing performed as a part of the medical care or as part of a separate research study will be eligible to participate in the EGI database.
Some clinical laboratories, namely GeneDx and Ambry Genetics, and many research studies perform sequencing on trios (proband + mother and father) or extended families.
- In such instances, the sequence data for all sequenced family members will be requested.
All subjects for whom data is requested will be required to complete an informed consent form for the EGI Repository (i.e. when a trio is requested, the proband, mother and father will each have completed their own informed consent form).
Pregnant women may be enrolled into this study; however, pregnancy is neither an inclusion nor exclusion criterion, and pregnant women will not be preferentially recruited/enrolled.

Participating Mayo Clinic locations

Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.

Mayo Clinic Location	Status
Rochester, Minn. Mayo Clinic principal investigator Gregory Cascino, M.D.	Closed for enrollment

Mayo Clinic Location

Status

Rochester, Minn.

Mayo Clinic principal investigator

Gregory Cascino, M.D.

Closed for enrollment

More information

Publications

Publications are currently not available

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