Early infantile epileptic encephalopathy 25

Title

Other Names:

SLC13A5 deficiency; EIEE25

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

This disease is grouped under:

Early Infantile Epileptic Encephalopathy

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Encephalopathy		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
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
EEG with multifocal slow activity		0010844
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Global developmental delay		0001263
Hyporeflexia	Decreased reflex response Decreased reflexes [ more ]	0001265
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
5%-29% of people have these symptoms
Abnormal corpus callosum morphology		0001273
Abnormal myelination		0012447
Ataxia		0001251
Attention deficit hyperactivity disorder	Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ]	0007018
Autism		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
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Myoclonus		0001336
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Poor head control		0002421
Ptosis	Drooping upper eyelid	0000508
Rigidity	Muscle rigidity	0002063
Short stature	Decreased body height Small stature [ more ]	0004322
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Tremor	Tremors	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
Autosomal recessive inheritance		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 seizures		0031165
Muscular hypotonia of the trunk	Low muscle tone in trunk	0008936

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2020

Do you have updated information on this disease? We want to hear from you.

Diagnosis 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.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations 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: Kim@tessfoundation.org
Website: http://tessfoundation.org/

Do you know of an organization? We want to hear from you.

Learn More 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.

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