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Disease Profile
Malignant migrating partial seizures of infancy
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Infancy
ICD-10
-
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Migrating partial epilepsy of infancy; Migrating partial seizures of infancy; MMPEI;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Malignant migrating partial
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
5%-29% of people have these symptoms | ||
Poor eye contact | 0000817 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Clonus | 0002169 | |
Delayed myelination | 0012448 | |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
Epileptic |
0200134 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Gliosis | 0002171 | |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Neuronal loss in |
Loss of brain cells
|
0002529 |
Progressive |
Worsens with time
|
0003676 |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
Tetraplegia |
Paralysis of all four limbs
|
0002445 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
CURE Epilepsy
420 N. Wabash Avenue, Suite 650
Chicago, IL 60611
Toll-free: 1-844-231-2873
Telephone: +1-312-255-1801
E-mail: https://www.cureepilepsy.org/about-cure-epilepsy/contact-us/
Website: https://www.cureepilepsy.org/ -
Epilepsy Action
New Anstey House Gate Way Drive
Yeadon, LEEDS LS19 7XY
United Kingdom
Telephone: 0113 210 8800 (UK) or +44 (0)113 210 8800 (international)
Fax: 0113 391 0300 (UK) or +44 (0)113 391 0300 (international)
E-mail: [email protected]
Website: https://www.epilepsy.org.uk/
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Epilepsy Action offers an information page on Malignant migrating partial seizures of infancy. Please click on the link to access this resource.
- Genetics Home Reference (GHR) contains information on Malignant migrating partial seizures of infancy. This website is maintained by the National Library of Medicine.
In-Depth Information
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Malignant migrating partial seizures of infancy. Click on the link to view a sample search on this topic.
References
- Malignant migrating partial seizures of infancy. Genetics Home Reference. March 2014; https://ghr.nlm.nih.gov/condition/malignant-migrating-partial-seizures-of-infancy.
- Ishii A, Shioda M, Okumura A, Kidokoro H, Sakauchi M, Shimada S, Shimizu T, Osawa M, Hirose S, Yamamoto T. A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy. Gene. December 2013; 531(2):467-471.
- Migrating partial epilepsy in infancy. Epilepsy Action. October 2013; https://www.epilepsy.org.uk/info/syndromes/migrating-partial-epilepsy-in-infancy.