• EPGP will recruit persons with specific forms of epilepsy and controls without epilepsy. DNA will be isolated from participants' blood and genetic variants associated with common forms of epilepsy will be identified. [ Time Frame: over 4.5 years ] [ Designated as safety issue: No ]
  

Epilepsy is one of the most common neurological disorders and is a major public health concern. Approximately 30 percent of people with epilepsy have medically intractable epilepsy, and the medical and social consequences of the disorder are enormous. Treatments developed for epilepsy have largely been experimental rather than based on knowledge of basic mechanisms because the mechanisms are poorly understood.

The Epilepsy Phenome/Genome Project (EPGP) is a large-scale, national, multi-institutional, collaborative research project aimed at advancing the understanding of the genetic basis of the most common forms of epilepsy.

The overall goal of EPGP is to collect detailed, high quality phenotypic (i.e., characteristics of individuals, from the molecular level to the whole person) information on persons with epilepsy and controls (persons without epilepsy), and to compare the phenotypic information with genomic information. EPGP will provide a national resource that may lead to many discoveries related to the diagnosis and treatment of epilepsy, including the eventual development of new therapies based on a better understanding of causes of the disorder.

EPGP will recruit persons with specific forms of epilepsy and controls without epilepsy.

Inclusion Criteria:

Subjects:

• Current age from 4 weeks to 60 years.
• Clear diagnosis of epilepsy, i.e., a lifetime history of two or more unprovoked seizures.
• Age at first unprovoked seizure younger than 30 years.

• High quality clinical and laboratory data (i.e., neuroimaging, EEG) must be available throughout the patient's history:

  • For patients with epilepsy onset less than two years prior to study entry, all medical records related to the epilepsy history must be available.
  • For patients with epilepsy onset more than two years prior to study entry, original records regarding history, EEG, and imaging data must be available for the two years preceding study entry.
• All patients with localization-related epilepsy (LRE) or idiopathic generalized epilepsy (IGE) must have a 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.

Controls

• Current age from 4 weeks to 60 years

Exclusion Criteria:

Subjects:

• 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 karyotyping).

Controls:

• History of epilepsy or epileptic seizures, including febrile or acute symptomatic.
• History of a potential antecedent cause of epilepsy (i.e., a structural or metabolic insult to the CNS, 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.
• First-degree relative with epilepsy.