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Disease Profile

Early Infantile Epileptic Encephalopathy

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

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

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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.

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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Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Early Infantile Epileptic Encephalopathy (EIEE) is a neurological disorder characterized by seizures. The disorder affects newborns, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures (which cause stiffening of muscles of the body, generally those in the back, legs, and arms), but may also experience partial seizures, and rarely, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs).[1] Episodes may occur more than a hundred times per day.[2] Most infants with the disorder show underdevelopment of part or all of the cerebral hemispheres or structural anomalies.[1][2] Some cases are caused by metabolic disorders or by mutations in several different genes. The cause for many cases can’t be determined. There are several types of early infantile epileptic encephalopathy.[3] The EEGs reveal a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known as “burst suppression.” The seizures associated with this disease are difficult to treat and the syndrome is severely progressive.[1] Some children with this condition go on to develop other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome.[1][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
80%-99% of people have these symptoms
Global developmental delay
0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
30%-79% of people have these symptoms
EEG with burst suppression
0010851
Hypsarrhythmia
0002521
Infantile muscular hypotonia
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 seizure
0010819
Autistic behavior
0000729
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Cerebellar atrophy
Degeneration of cerebellum
0001272
Choreoathetosis
0001266
Delayed myelination
0012448
Developmental regression
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 ataxia
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 corpus callosum
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
Spasticity
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 palate
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
Dystonia
0001332
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Microcephaly
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
Strabismus
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

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

    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

        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

          1. NINDS Ohtahara Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). 2015; https://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm.
          2. Early infantile epileptic encephalopathy. Orphanet. July 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1934.
          3. 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.