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Disease Profile

Early infantile epileptic encephalopathy 4

Prevalence
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.

Unknown

Age of onset

#N/A

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

EIEE4; STXBP1-related early-onset encephalopathy; STXBP1 disorders

Summary

Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms may include intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic dior quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner.[1][2] Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.[3]

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

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0001344
Autosomal dominant inheritance
0000006
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Cerebral atrophy
Degeneration of cerebrum
0002059
Cerebral hypomyelination
0006808
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
EEG with burst suppression
0010851
Epileptic encephalopathy
0200134
Epileptic spasm
0011097
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Generalized myoclonic seizure
0002123
Generalized tonic seizure
0010818
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Hypsarrhythmia
0002521
Impaired horizontal smooth pursuit
0001151
Infantile encephalopathy
0007105
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

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0010864
Neonatal onset
0003623
Severe global developmental delay
0011344
Spastic paraplegia
0001258
Spastic tetraplegia
0002510
Status epilepticus
Repeated seizures without recovery between them
0002133
Tremor
0001337
Variable expressivity
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

      Social Networking Websites

        Organizations Providing General Support

          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

              1. EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4. OMIM. April 2014; https://www.omim.org/entry/612164.
              2. 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.
              3. 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.