Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanEarly infantile developmental and epileptic encephalopathy
ORPHA:1934Clinical syndrome
Also called EIDEE · Early infantile epileptic encephalopathy with suppression-bursts · Ohtahara syndrome
What it is
A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.
Key facts
- Prevalence
- 1-9 / 100 000 (at birth, Japan)
- Age of onset
- Neonatal
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive
- Classified as
- Clinical syndrome
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
Very common80–99%
5Common30–79%
13Sometimes5–29%
26- Atonic seizure
- Autistic behavior
- Bilateral tonic-clonic seizure
- Cerebellar atrophy
- Choreoathetosis
- Delayed myelination
- Developmental regression
- Diffuse cerebral atrophy
and 18 more in this range
Rare1–4%
18- Absent thumbnail
- Anteverted nares
- Broad finger
- Broad phalanx of the toes
- Cleft palate
- Depressed nasal bridge
- Dystonia
- Failure to thrive
and 10 more in this range
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
ICD-10 codes
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
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.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.