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Epilepsy Genetics Initiative (EGI)

Overview

Información sobre este estudio

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.

Elegibilidad para la participación

Los requisitos de elegibilidad de los participantes incluyen la edad, el sexo, el tipo y el estadio de la enfermedad, y los problemas de salud o tratamientos previos. Las pautas difieren de un estudio a otro e identifican quiénes pueden o no pueden participar. No hay garantía de que cada persona elegible que desee participar en un ensayo se inscribirá. Comunícate con el equipo del estudio para analizar la elegibilidad del estudio y la posible participación.

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.

 

Sedes participantes de Mayo Clinic

Los estatus de los estudios cambian con frecuencia. Comunícate con el equipo del estudio para obtener la información más actualizada acerca de la posibilidad de participar.

Sede de Mayo Clinic Estatus

Rochester, Minn.

Investigador principal de Mayo Clinic

Gregory Cascino, M.D.

Cerrado para la inscripción

More information

Publicaciones

Publications are currently not available

Otros temas en investigación

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CLS-20399422

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