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Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.

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seizures","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"ORPHA:293181","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

The cause of EIMFS is not always known. Variants (also called mutations) in one of several different genes cause EIMFS in approximately 70 percent of cases. Researchers are studying how the features of EIMFS and the responses to various treatments differ in affected individuals depending on the particular gene involved.

Variants in the KCNT1 gene are the most common genetic cause of EIMFS. The KCNT1 gene provides instructions for making a protein that helps form potassium channels. Potassium channels, which transport positively charged atoms (ions) of potassium into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals. The potassium channels made with the KCNT1 protein are active in nerve cells (neurons) in the brain. This flow of ions is involved in generating currents that activate (excite) neurons and send signals in the brain.

The KCNT1 gene variants that cause EIMFS typically lead to the substitution of one protein building block (amino acid) for another in the KCNT1 protein. This altered protein disrupts the function of the potassium channel. In most cases, the KCNT1 variants are described as “gain-of-function variants” because they increase the flow of potassium ions through the channel. The increased flow of potassium ions likely leads to the excitation of neurons and the repeated seizures seen in people with EIMFS.

Variants in genes that provide instructions for making proteins that form sodium channels have also been found to cause EIMFS. These sodium channels transport sodium ions into cells, which helps cells generate and transmit electrical signals. The SCN2A gene provides instructions for making a protein that helps form part of the sodium channel, and variants in this gene are the second most common genetic cause of EIMFS.

Sodium channels that are made with the SCN2A protein are active in neurons. Variants in the SCN2A gene can alter the structure and function of this protein. Researchers are working to learn more about the complex ways in which SCN2A gene variants affect the activity of sodium channels in the brain and how this change in activity results in the repeated seizures seen in children with EIMFS.

In some cases, EIMFS has been associated with a group of disorders called congenital disorders of glycosylation (CDGs). CDGs are genetic conditions that affect a process called glycosylation, in which proteins are modified by adding sugar molecules. Glycosylation is necessary for the normal function of many different proteins.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Epilepsy of infancy with migrating focal seizures?"},{"bodyHtml":"

Focal motor seizures are the most common type of seizure seen in children with EIMFS. Focal motor seizures start in one area of the brain and affect muscle (motor) activity on one side of the body. Affected individuals may have more than one focal seizure at a time, and seizure activity can spread (migrate) from one brain region to another during an episode.

Although the seizures that are associated with EIMFS may be relatively infrequent at first, the seizure frequency increases rapidly. Affected individuals often experience several seizures per day; in some cases, the seizures may seem almost continuous. Children with EIMFS may also have individual seizures that last for several minutes (status epilepticus). After a year or more of persistent seizures, the episodes may become less frequent.

In children with EIMFS, seizures can affect the growth of the brain, leading to a small head size (microcephaly). The problems with brain development can also cause significant developmental delays and intellectual disabilities. Many affected individuals do not learn to walk or talk. Additional signs and symptoms of EIMFS may include weak muscle tone (hypotonia), abnormal tensing of the muscles (spasticity), and abnormal involuntary muscle movements.

EIMFS is one of a group of severe epilepsies called developmental and epileptic encephalopathies (DEEs). These disorders are characterized by significant developmental delays and seizures that begin early in life and may be difficult to treat.

Though some people with EIMFS have had milder signs and symptoms, many affected individuals do not survive past early childhood because of the serious health problems that are associated with this condition.

Source: MedlinePlus Genetics

","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"epilepsy-of-infancy-with-migrating-focal-seizures","sourceDocuments":[{"name":"Epilepsy of infancy with migrating focal seizures","reviewed":"2025-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:13.221014+00:00","label":"Causes","pageSha256":"94a525e08baf9863825a68712e3fe6f41325d906915be2b06490b5d5f580e47a","sourceUrl":"https://medlineplus.gov/genetics/condition/epilepsy-of-infancy-with-migrating-focal-seizures/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/epilepsy-of-infancy-with-migrating-focal-seizures"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Epilepsy of infancy with migrating focal seizures"},"schemaVersion":1}