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Disease Profile
Early Infantile Epileptic Encephalopathy
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
Neonatal
ICD-10
G40.3
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
Categories
Congenital and Genetic Diseases; Nervous System Diseases
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Global |
0001263 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
30%-79% of people have these symptoms | ||
0010851 | ||
Hypsarrhythmia | 0002521 | |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Poor head control | 0002421 | |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 |
5%-29% of people have these symptoms | ||
Atonic |
0010819 | |
Autistic behavior | 0000729 | |
Bilateral tonic-clonic seizure |
Grand mal seizures
|
0002069 |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Choreoathetosis | 0001266 | |
Delayed myelination | 0012448 | |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
Diffuse cerebral atrophy | 0002506 | |
Diffuse white matter abnormalities | 0007204 | |
Dyskinesia |
Disorder of involuntary muscle movements
|
0100660 |
EEG with spike-wave complexes | 0010850 | |
Episodic |
0002131 | |
Febrile seizure (within the age range of 3 months to 6 years) |
Fever induced seizures
|
0002373 |
Focal-onset seizure |
Seizure affecting one half of brain
|
0007359 |
Generalized clonic seizure | 0011169 | |
Generalized non-motor (absence) seizure |
Brief seizures with staring spells
|
0002121 |
Generalized tonic seizure | 0010818 | |
Hyperactivity |
More active than typical
|
0000752 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Infantile spasms | 0012469 | |
Myoclonus | 0001336 | |
Pachygyria |
Fewer and broader ridges in brain
|
0001302 |
Self-injurious behavior |
Self-injurious behaviour
|
0100716 |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Tremor | 0001337 | |
Uniand bilateral multifocal epileptiform discharges | 0011190 | |
1%-4% of people have these symptoms | ||
Absent thumbnail | 0012554 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Broad finger |
Broad fingers
Wide fingers
[ more ] |
0001500 |
Broad phalanx of the toes |
Wide toe bones
|
0010174 |
Cleft roof of mouth
|
0000175 | |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
0001332 | ||
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Precocious puberty |
Early onset of puberty
Early puberty
[ more ] |
0000826 |
Renal dysplasia | 0000110 | |
Short finger |
Stubby finger
|
0009381 |
Sloping forehead |
Inclined forehead
Receding forehead
[ more ] |
0000340 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Umbilical hernia | 0001537 | |
Ureterocele | 0000070 | |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include other epileptic encephalopathies such as early myoclonic encephalopathy, West syndrome (see these terms) and other early onset epileptic encephalopathies.
Visit the Orphanet disease page for more information.
|
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
-
KCNQ2 Cure Alliance
3700 Quebec Street
Unit 100-118
Denver, CO 80207
E-mail: [email protected]
Website: https://www.kcnq2cure.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
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
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) lists the subtypes and associated genes for Early Infantile Epileptic Encephalopathy in a table called Phenotypic Series. Each entry in OMIM includes 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. Click on the link to view a sample search on this topic.
References
- NINDS Ohtahara Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2015; https://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm.
- Early infantile epileptic encephalopathy. Orphanet. July 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1934.
- Beal JC, Cherian K & Moshe SL. Early-Onset Epileptic Encephalopathies: Ohtahara Syndrome and Early Myoclonic Encephalopathy. Pediatric Neurolog. November 2012.; 47(5):317–323. https://www.ncbi.nlm.nih.gov/pubmed/23044011.