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malignant migrating partial seizures of infancy (MPSI) - Clinical Profile, Treatments & Trials | Kisho | Kisho

Rare Disease

malignant migrating partial seizures of infancy

MONDO:0017385

Also known as:MPSIMMPEIMMPSI

Overview

A very rare severe form of epilepsy with poor prognosis that usually begins within a few weeks of birth. The seizure activity can appear in multiple locations in the brain or migrate from one region to another during an episode. It results in severe developmental delay.

OnsetCHILDHOOD

Treatments1 FDA approved

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: childhood.

GeneReviews

Clinical Guidance

SLC12A5-related epilepsy of infancy with migrating focal seizures (SLC12A5-EIMFS) is characterized by severe early-onset epileptic encephalopathy, with a distinct electroclinical phenotype that is common to all EIMFS regardless of cause. To date nine children have been reported with SLC12A5-EIMFS . Seizures. In the nine children reported, three clinical stages were evident:

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Since 2010 a description of the characteristic symptoms and findings of epilepsy of infancy with migrating focal seizures (EIMFS) has been included in the classification of epilepsy syndromes by the International League Against Epilepsy. The diagnosis of SLC12A5-EIMFS is established by molecular genetic testing.

Suggestive Findings

SLC12A5-related epilepsy of infancy with migrating focal seizures (SLC12A5-EIMFS) should be considered in children with the following epilepsy and electroencephalogram (EEG) findings and family history.

Epilepsy features

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

1 FDA-approved treatment is available for malignant migrating partial seizures of infancy, including TIAGABINE HYDROCHLORIDE (TIAGABINE HYDROCHLORIDE, approved 1997).

Approved Therapies

Brand Name	Generic Name	Mechanism	Approved	Market Status

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Routine monitoring of:

Feeding, nutritional status, swallowing abilities, gastroesophageal reflux, risk of aspiration pneumonia / respiratory infection
Postural problems (resulting from such complications as scoliosis and hip abnormalities) with regular spine and hip x-rays

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:293181

GARD

Genetic and Rare Diseases Info Center

GARD:12919

Questions for Your Care Team

→What are the benefits and potential side effects of TIAGABINE HYDROCHLORIDE for managing malignant migrating partial seizures of infancy?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with SLC12A5-related epilepsy of infancy with migrating focal seizures (SLC12A5-EIMFS), the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with SLC12A5-EIMFS

System/Concern	Evaluation	Comment
Constitutional	Assess for evidence of failure to thrive.	—
Eyes	Ophthalmologic eval incl assessment of vision	—
ENT/Mouth	Assess hearing.	Gastrointestinal/
Feeding	Assess swallowing, gastroesophageal reflux, feeding, nutritional status.	Incl assessment by speech language therapist.
Respiratory	Assess respiratory status for evidence of risk of respiratory infections aspiration.	Preventive measures may be needed (e.g., flu vaccination prophylactic antibiotics in winter).
Neurologic	Neurologic eval	Incl EEG brain MRI.
Musculoskeletal	Assessment of tone by pediatric rehab specialist /or PT	—
Development	Developmental assessment	Incl eval of motor skills, speech/ language, general cognitive, vocational skills. Miscellaneous/
Other	Consultation w/clinical geneticist /or genetic counselor	PT = physical therapist Seizures. There are no specific treatments for seizures in SLC12A5-EIMFS. Seizures in EIMFS are generally resistant to most anti-seizure medication.

Source: GeneReviews — "SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures"

Kisho

malignant migrating partial seizures of infancy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Approved Therapies

Prognosis

Surveillance Guidelines

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

EIEE6

Management Guidelines

Therapies Under Investigation

Clinical Trials

malignant migrating partial seizures of infancy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Approved Therapies

Prognosis

Surveillance Guidelines

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

EIEE6

Management Guidelines

Therapies Under Investigation

Clinical Trials