EPILEPSY SYNDROMES

Epilepsy syndrome

An epilepsy syndrome is defined when there is a characteristic cluster of clinical and EEG features, that are often supported by specific etiological findings (structural, genetic, metabolic, immune and infectious). The diagnosis of a syndrome in an individual with epilepsy frequently carries prognostic and treatment implications. Syndromes often have age-dependent presentations and a range of specific comorbidities.

The identification of a syndrome is useful as it provides information on which underlying etiologies should be considered. Several syndromes demonstrate seizure aggravation with particular medications, which can be avoided with early diagnosis of the syndrome.

Epilepsy syndromes can be grouped by age of seizure onset and by epilepsy type. Some epilepsy syndromes are self-limited, others are associated with enduring epilepsy. Some are associated with encephalopathy and others are not.

Etiology-specific epilepsy syndromes are a work in progress, a definition can be found here.

Epilepsy syndromes by age and epilepsy type

Neonate/Infant

• Self-limited
  • Self-limited (Familial) Neonatal Epilepsy (SeLNE)
  • Self-limited Familial Neonatal-Infantile Epilepsy (SeLFNIE)
  • Self-limited (Familial) Infantile Epilepsy (SeLIE)
  • Genetic Epilepsy with Febrile Seizures Plus (GEFS+) Spectrum
  • Myoclonic Epilepsy in Infancy (MEI)
• With Developmental and Epileptic Encephalopathy (DEE)
• Early-Infantile Developmental and Epileptic Encephalopathy (EIDEE)
• Epilepsy of Infancy with Migrating Focal Seizures (EIMFS)
• Infantile Epileptic Spasms Syndrome (IESS)
• Dravet Syndrome (DS)

Childhood

• Self-limited Focal Epilepsy Syndromes (SeLFEs)
  • Remission expected in all cases by adolescence
    • Self-Limited Epilepsy with Centrotemporal Spikes (SeLECTS)
    • Self-Limited Epilepsy with Autonomic Seizures (SeLEAS)
  • Remission expected in most cases by adolescence
    • Childhood Occipital Visual Epilepsy (COVE)
    • Photosensitive Occipital Lobe Epilepsy (POLE)
• Genetic Generalised Epilepsy Syndromes
  • Epilepsy with Eyelid Myoclonia (EEM)
  • Epilepsy with Myoclonic Absence (EMA)
• Idiopathic Generalised Epilepsy Syndrome
  • Childhood Absence Epilepsy (CAE)
• With Developmental and/or Epileptic Encephalopathy (DE, EE or DEE)
• Epilepsy with Myoclonic Atonic Seizures (EMAtS)
• Lennox-Gastaut Syndrome (LGS)
• Developmental and/or Epileptic Encephalopathy with Spike-Wave Activation in Sleep (DEE-SWAS, EE-SWAS)
• Febrile Infection-Related Epilepsy Syndrome (FIRES)
• Hemiconvulsion-Hemiplegia-Epilepsy Syndrome (HHE)

Variable Age

• Idiopathic Generalised Epilepsy Syndromes
  • Juvenile Myoclonic Epilepsy (JME)
  • Juvenile Absence Epilepsy (JAE)
  • Epilepsy with Generalised Tonic-Clonic Seizures Alone (EGTCA)
• Focal Epilepsy Syndromes
  • Sleep-Related Hypermotor (Hyperkinetic) Epilepsy (SHE)
  • Familial Mesial Temporal Lobe Epilepsy (FMTLE)
  • Epilepsy with Auditory Features (EAF)
  • Familial Focal Epilepsy with Variable Foci (FFEVF)
• Combined Generalised and Focal Epilepsy Syndrome
  • Epilepsy with Reading-Induced Seizures (EwRIS)
• With Developmental and/or Epileptic Encephalopathy (DEE) or Progressive Neurological Deterioration
  • Progressive Myoclonus Epilepsies (PME)
  • Rasmussen Syndrome

Epilepsy syndrome age group definitions

• Gestational age: time elapsed between the first day of the last menstrual period and the day of delivery (completed weeks)
• Postmenstrual age: gestational age plus chronological age (completed weeks)
• Neonate: period from birth up to 44 weeks postmenstrual age
• Infant: from 44 weeks postmenstrual age to age 24 months of age
• Childhood: 24 months of age to puberty
• Variable age: a syndrome that begins at a variable age is seen both in those aged ≤18 years and in those aged >19 years.