Childhood absence epilepsy

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Childhood absence epilepsy

ORPHA:64280Disease

Also called Pyknolepsy

What it is

An idiopathic generalized epilepsy characterized by the appearance in an otherwise healthy child of multiple per day typical absence seizures. Epilepsy remits in the majority of children, at later by early adolescence.

Key facts

Prevalence
1-9 / 100 000 (annual incidence, United States)
Age of onset
Adolescent, Childhood
Inheritance
Autosomal dominant
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

GABRB3Major susceptibility factor
CACNA1HCandidate gene tested
GABRA1Candidate gene tested
GABRG2Candidate gene tested
JRKCandidate gene tested

ICD-10 codes

G40.3filed under a broader ICD-10 category — shared with 22 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Benefit programs to look at

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

MONDO 0010826OMIM 600131OMIM 607681OMIM 611136OMIM 611942OMIM 612269UMLS C4281785

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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