Ensayos clínicos

Inclusion Criteria:

• All ages will be included, for genetic testing completed between birth and 100 years of age.
• Subjects will be included if:
  • They received genetic testing related to their neurologic/neurodevelopmental symptoms;
  • The test result was pathogenic, likely pathogenic, or a variant of uncertain significance relative to seizures/ epilepsy;
  • They have a diagnosis of seizures/ epilepsy.  Genetic testing may encompass a broad array of methodologies, including complete genomic hybridization, targeted gene panels, whole exome sequencing, whole genome sequencing, single gene testing, karyotyping, fluorescent in situ hybridization, or methylation analysis. The database may include abnormal genetic test results for subjects of any age. 
• Subjects will be included for abnormal or indeterminant genetic results obtained either prospectively or retrospectively.  (Example: a subject with known pathogenic variant who presents for neurologic care after IRB approval may participate in the study even if no new genetic testing is ordered).
• Subjects may be included if they have a pathogenic or likely pathogenic variant in a gene with high penetrance for epilepsy even if they have not yet clinically manifest with seizures.
• Subjects will be excluded if no genetic testing has been completed, or the results were interpreted as normal, benign, or likely benign.
• Subjects will be excluded if genetic testing only demonstrates a single variant in a gene or genes with an inheritance pattern where a single pathogenic variant would not be disease-causing (e.g. a single pathogenic variant in an autosomal recessive gene).

Exclusion Criteria:

• The study will not include parents (adults) who are unable to provide consent due to language barriers, intellectual disabilities or any other extenuating circumstances.
• Individuals who are not yet adults (infants, children, teenagers) will be required to provide their assent if they are over the age of 9 years old (in absence of a neurodevelopmental disability that would preclude competence to do so).
• Pregnant women will not be included in this study.
• Prisoners will not be included in this study.

Eligibility last updated 4/29/22. Questions regarding updates should be directed to the study team contact.