The Epilepsy Phenome/Genome Project
- Current age 4 weeks and older.
- Clear diagnosis of epilepsy, i.e., a lifetime history of two or more unprovoked
- Age at first unprovoked seizure younger than 45 years old.
- High quality clinical and laboratory data (i.e., neuroimaging, EEG) must be available throughout the patient's history
- All patients with localization-related epilepsy (LRE) or idiopathic generalized
epilepsy (IGE) must have a first-degree relative (parent, child, or sibling) with
non-symptomatic (idiopathic or cryptogenic) epilepsy who is willing and available to participate.
- All patients with infantile spasms (IS), Lennox-Gastaut syndrome (LGS), or
malformations of cortical development (MCD) must have both biological parents
available and willing to participate.
- Clinical and laboratory data do not allow a clear determination of whether the patient has epilepsy, or whether the diagnosis
is LRE, IGE, IS, LGS, or MCD.
- Exclusively febrile seizures or other acute symptomatic seizures.
- Identified antecedent cause of epilepsy (i.e., a structural or metabolic insult to the CNS prior to the first unprovoked seizure,
such as stroke, brain tumor, severe head trauma, etc., or a progressive neurodegenerative disorder).
- Recognized genetic syndrome (e.g., tuberous sclerosis, neurofibromatosis, Rett's or Angelman's syndromes) or chromosomal abnormality.
(e.g., aneuploidies, unbalanced translocations, or chromosomal deletions and duplications detectable by conventional medical
Last updated December 11, 2012