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 profound 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 profound 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 Epileptic Encephalopathies

Include:

• Severe refractory epilepsy of unknown aetiology with developmental plateauing or regression

• 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

Subjects with Mixed (generalized and focal) Epilepsy

Include:

• Clear-cut generalized AND focal epileptiform activity on EEG

• Normal neuroimaging (HS is allowed)

Exclude:

• Lesional cases

• Moderate to profound intellectual disability

Note: Ideally, there should be both clinical and EEG evidence for both generalized and focal seizures. Where the clinical evidence for both types is equivocal, but the EEG data clear-cut, these cases can be included.