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Disease Profile
Early infantile epileptic encephalopathy 25
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
#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.
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)
SLC13A5 deficiency; EIEE25
Categories
Congenital and Genetic Diseases; Nervous System Diseases
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
|
---|---|---|
80%-99% of people have these symptoms | ||
0001298 | ||
30%-79% of people have these symptoms | ||
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
0010844 | ||
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global |
0001263 | |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
5%-29% of people have these symptoms | ||
Abnormal |
0001273 | |
Abnormal myelination | 0012447 | |
0001251 | ||
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 |
0000717 | ||
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
Difficulty walking |
Difficulty in walking
|
0002355 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Dyskinesia |
Disorder of involuntary muscle movements
|
0100660 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
High forehead | 0000348 | |
Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
Hypsarrhythmia | 0002521 | |
Impulsivity |
Impulsive
|
0100710 |
Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] |
0001268 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Myoclonus | 0001336 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Poor head control | 0002421 | |
Drooping upper eyelid
|
0000508 | |
Rigidity |
Muscle rigidity
|
0002063 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Tremor | 0001337 | |
Unsteady gait |
Unsteady walk
|
0002317 |
1%-4% of people have these symptoms | ||
Abnormality of vision |
Abnormality of sight
Vision issue
[ more ] |
0000504 |
Limb hypertonia |
Increased muscle tone of arm or leg
|
0002509 |
Optic atrophy | 0000648 | |
Retinal degeneration |
Retina degeneration
|
0000546 |
Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the cerebral white matter | 0002500 | |
Amelogenesis imperfecta | 0000705 | |
0000007 | ||
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 |
Delayed myelination | 0012448 | |
Epileptic encephalopathy | 0200134 | |
Involuntary movements |
Involuntary muscle contractions
|
0004305 |
Multifocal |
0031165 | |
Muscular hypotonia of the trunk |
Low muscle tone in trunk
|
0008936 |
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
-
TESS Research Foundation
655 Oak Grove Ave #53
Menlo Park, CA 94026
Telephone: 650-521-2279
E-mail: [email protected]
Website: https://tessfoundation.org/
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 25. This website is maintained by the National Library of Medicine.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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 Early infantile epileptic encephalopathy 25. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Thevenon J, Milh M, Feillet F, St-Onge J, Duffourd Y, Juge C, Roubertie A, Heron D, Mignot C, Raffo E, Isidor B, Wahlen S, Sanlaville D, Villeneuve N, Darmency-Stamboul V, Toutain A, Lefebvre M, Chouchane M, Huet F, Lafon A, de Saint Martin A, Lesca G, El Chehadeh S, Thauvin-Robinet C, Masurel-Paulet A, Odent S, Villard L, Philippe C, Faivre L, Riviere JB. Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life Am J Hum Genet. 2014 Jul 3;95(1):113-20.