Subjects with IGE/GGE

Include:

  • Convincing history of generalized seizure types (GTCS, Absence, Myoclonus) and generalized epileptiform on EEG
  • Normal neuroimaging if performed (not required

Exclude:

  • History of focal seizures
  • Moderate to severe intellectual disability

Priority given to:

  • Those with phenotyping data uploaded/entered
  • Lowest priority given to those with Epilepsy with GTCS Alone (https://www.epilepsydiagnosis.org/syndrome/egtcsa-overview.html) as the diagnosis is less certain

Subjects with NAFE

Include:

  • Convincing history of focal seizure types
  • Focal epileptiform or normal EEG
  • Neuroimaging is normal or shows hippocampal sclerosis  (MRI preferred but CT is accepted)

Exclude:

  • History of generalized seizures
  • Moderate to severe intellectual disability

Priority given to:

Those with phenotyping data uploaded/entered
First or second degree relative with history of non-acquired epilepsy (febrile seizures excluded)

Subjects with Lesional Focal Epilepsy

Include:

  • Definitive focal lesion on MRI
  • Seizure types and other clinical features consistent with lesion type and location
  • Lack of progression of tumor on brain imaging required for benign tumors

Lesional cases with seizures to be included:

  • Malformation of cortical development:
    • Focal cortical dysplasia
    • Lissencephaly
    • Subcortical band heterotopia
    • Grey matter heterotopia
    • Polymicrogyria
    • Hypothalamic Hamartoma
    • Hemimegalencephaly
    • Schizencephaly
  • Traumatic brain injury
  • Stroke
  • Hypoxic ischemic stroke
  • Benign tumor (DNET, ganglioglioma)
  • Cerebral angioma (cavernoma)

Exclude:

  • Tuberous sclerosis

Subjects with Epileptic Encephalopathies

Include:

  • Severe refractory epilepsy of unknown aetiology with developmental plateauing or regression
  • Normal MRI
  • Epileptiform on EEG (although it is acknowledged that subjects enrolled earlier on in disease may not have this)

Priority given to:

  • Those with phenotyping data uploaded/entered
  • Those with a negative epilepsy gene panel already completed
  • Those with parental DNA available