Infantile epileptic spasms syndrome

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Infantile epileptic spasms syndrome

ORPHA:697160Disease

Also called IESS

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Prevalence
1-9 / 100 000
Age of onset
Childhood, Infancy, Neonatal
Inheritance
Autosomal dominant, Autosomal recessive, X-linked 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

ARXDisease-causing germline mutation(s)
CDKL5Disease-causing germline mutation(s)
CNPY3Disease-causing germline mutation(s)
GRIN2BDisease-causing germline mutation(s) (gain of function)
GUF1Disease-causing germline mutation(s)
NTRK2Disease-causing germline mutation(s)
PHACTR1Disease-causing germline mutation(s)
PIGADisease-causing germline mutation(s)
PLCB1Disease-causing germline mutation(s)
SCN2ADisease-causing germline mutation(s)
SIK1Disease-causing germline mutation(s)
SPTAN1Disease-causing germline mutation(s)
WDR45Disease-causing germline mutation(s)

ICD-10 codes

G40.4filed under a broader ICD-10 category — shared with 28 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

OMIM 300672OMIM 308350OMIM 613477OMIM 613722OMIM 616139OMIM 616341OMIM 617065OMIM 617929OMIM 618298

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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