Epilepsy of infancy

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Epilepsy of infancy with migrating focal seizures

ORPHA:293181Disease

Also called EIMFS · Epilepsy with migrating focal seizure in infancy · MMPEI · MMPSI · MPEI · MPSI · Malignant migrating partial epilepsy of infancy · Malignant migrating partial seizures of infancy · Migrating partial epilepsy of infancy · Migrating partial seizures of infancy

What it is

A rare epileptic and developmental encephalopathy characterized by seizure onset during the first months of life, focal seizures arising independently in both hemispheres, marked drug resistance, and severe, long-term cognitive disability.

Key facts

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

KCNQ2Disease-causing germline mutation(s)
KCNT1Disease-causing germline mutation(s) (gain of function)
PIGADisease-causing germline mutation(s)
PLCB1Disease-causing germline mutation(s)
SCN1ADisease-causing germline mutation(s)
SCN2ADisease-causing germline mutation(s)
SLC12A5Disease-causing germline mutation(s) (loss of function)
SLC25A22Disease-causing germline mutation(s)
TBC1D24Disease-causing germline mutation(s) (loss of function)

ICD-10 codes

G40.0filed under a broader ICD-10 category — shared with 8 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

GARD 12919MEDDRA 10086114MONDO 0017385OMIM 613722OMIM 614959OMIM 615338OMIM 616645UMLS C3494976

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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