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Disease Profile
Early infantile epileptic encephalopathy 4
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.
#N/A
Age of onset
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ICD-10
#N/A
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)
EIEE4; STXBP1-related early-onset encephalopathy; STXBP1 disorders
Summary
Early infantile epileptic
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
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
0000006 | ||
Bilateral tonic-clonic |
Grand mal seizures
|
0002069 |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Cerebral hypomyelination | 0006808 | |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
0010851 | ||
Epileptic |
0200134 | |
Epileptic spasm | 0011097 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Generalized myoclonic seizure | 0002123 | |
Generalized tonic seizure | 0010818 | |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Hypsarrhythmia | 0002521 | |
Impaired horizontal smooth pursuit | 0001151 | |
Infantile encephalopathy | 0007105 | |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
Neonatal onset | 0003623 | |
Severe global |
0011344 | |
Spastic paraplegia | 0001258 | |
Spastic tetraplegia | 0002510 | |
Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
Tremor | 0001337 | |
0003828 |
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/ -
STXBP1 Foundation
128 Buxton Wood Pl
Apex, NC 27539
E-mail: [email protected]
Website: https://www.stxbp1disorders.org/
Organizations Providing General Support
-
Epilepsy Foundation
8301 Professional Place East
Suite 230
Landover, MD 20785
Toll-free: 800-332-1000 (24/7 Helpline)
Telephone: +1-301-459-3700
Fax: +1-301-577-2684
E-mail: [email protected]
Website: https://www.epilepsy.com/
en Español 1-866-748-8008
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
- Genetics Home Reference (GHR) contains information on Early infantile epileptic encephalopathy 4. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The Simons Variation in Individuals Project is an online community that supports families with rare genetic changes (also called "genomic variants") associated with features of autism and developmental delay. Simons VIP Connect provides access to resources, information, and family support. They also provide an opportunity for families to participate in research. Click on the link to access information about the STXBP1 gene.
- Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about Early infantile epileptic encephalopathy 4.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Early infantile epileptic encephalopathy 4. Click on the link to view a sample search on this topic.
References
- EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4. OMIM. April 2014; https://www.omim.org/entry/612164.
- Sampaio M, Rocha R, Biskup S, Leão M. Novel STXBP1 mutations in 2 patients with early infantile epileptic encephalopathy. J Child Neurol. April 2015; 30(5):622-624.
- NINDS Ohtahara Syndrome Information Page. National Institute of Neurological Disorders and Stroke. June 2015; https://www.ninds.nih.gov/Disorders/All-Disorders/Ohtahara-Syndrome-Information-Page.