Genetic or presumed genetic syndromes primarily expressed as epilepsy

Description

The epilepsy is, as best as understood, the direct result of one or more known or presumed genetic defects in which seizures are the core symptom of the disorder. [1]

Subcategories

• 8A61.0 Genetic epileptic syndromes with neonatal onset

  Epilepsy with onset in the first 30 days of life resulting from one or more known or presumed genetic defects in which seizures are the core symptom of the disorder. [1]

• 8A61.1 Genetic epileptic syndromes with onset in infancy

  Include a vast spectrum of phenotypes having in common a genetic background and the onset in infancy. They range from benign self-remitting to severe drug resistant syndromes. Family history of epilepsy is common in some syndromic entities and exceptional in others. [1]

• 8A61.2 Genetic epileptic syndromes with childhood onset
• 8A61.3 Genetic epileptic syndrome with adolescent or adult onset

  Includes a wide array of epilepsy syndromes having a (presumed) genetic origin, with onset in adolescence or in adult life. The developmental background is usually normal. Family history of epilepsy is frequently present. Focal and generalised seizures may be present most frequently in isolation to mark the diagnostic category, and rarely in combination. The interictal and ictal EEG may show typical, sometimes pathognomonic, patterns. Neuroimaging is normal although focal abnormalities are occasionally reported. [1]

• 8A61.4 Genetic epileptic syndromes with variable age of onset

  Epilepsies occurring in an otherwise normal child or adult. Seizures may occur spontaneously or may be provoked by external stimuli. Family history of seizures is not uncommon and is frequently reported in selected epilepsy syndromes. Genetic aspects may follow differing features ranging from complex hereditary patterns to classic Mendelian features or to focused defects. [1]

References

1. World Health Organization. International Classification of Diseases, 11th Revision, for Mortality and Morbidity Statistics (ICD-11 MMS), 2026-01 release. World Health Organization; 2026.

WHO text reproduced without changes from the WHO ICD-11 API. © World Health Organization, licensed under CC BY-ND 3.0 IGO. View this entry in the WHO ICD-11 browser.