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  3. KCNQ2-Related Disorders
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KCNQ2-Related Disorders


Información en español Title


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Categories:
Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary


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KCNQ2-related disorders are a group of epileptic diseases that start during the first 4 weeks of a child's life (neonatal period).[1] The groups is made up of various different diseases whose signs and symptoms vary. The conditions range from the less severe form KCNQ2-related benign familial neonatal epilepsy (KCNQ2-BFNE) to the more severe form KCNQ2-related epileptic encephalopathy (KCNQ2-NEE). KCNQ2-BFNE is characterized by seizures that start in otherwise healthy infants around day 3 of life and usually go away within 1 to 4 months. KCNQ2-NEE is characterized by epilepsy and profound intellectual disability and seizures that begin in the first weeks of life and typically show little response to treatment. They usually go away in a few months to a few years but can return later in childhood.[2][1] These disorders are caused by mutations in the KCNQ2 gene. Inheritance is autosomal dominant. Treatment is with antiseizure medications.[1]
Last updated: 6/24/2016

Symptoms Symptoms


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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.

Showing of 31 |
Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
80%-99% of people have these symptoms
EEG with burst suppression 0010851
Epileptic encephalopathy 0200134
Generalized tonic seizure 0010818
30%-79% of people have these symptoms
Abnormal globus pallidus morphology 0002453
Apnea 0002104
Cerebral edema
Swelling of brain
0002181
Dystonia 0001332
Epileptic spasm 0011097
Facial erythema
Blushed cheeks
Blushing
Red face
Red in the face
[ more ]
0001041
Feeding difficulties
Feeding problems
Poor feeding
[ more ]
0011968
Inability to walk 0002540
Muscular hypotonia
Low or weak muscle tone
0001252
Pallor 0000980
Poor gross motor coordination 0007015
Profound global developmental delay 0012736
5%-29% of people have these symptoms
Cerebral atrophy
Degeneration of cerebrum
0002059
Febrile seizure (within the age range of 3 months to 6 years)
Fever induced seizures
0002373
Global developmental delay 0001263
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Hypsarrhythmia 0002521
Motor delay 0001270
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Focal clonic seizure 0002266
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Infantile onset
Onset in first year of life
Onset in infancy
[ more ]
0003593
Myokymia 0002411
Neonatal onset 0003623
Seizure 0001250
Spastic tetraparesis 0001285
Showing of 31 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with KCNQ2-Related Disorders. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for KCNQ2-Related Disorders:
    International Ion Channel Epilepsy Patient Registry
    The RIKEE (Rational Intervention for KCNQ2/3 Epileptic Encephalopathy) Project
    International KCNQ2 Encephalopathy Patient Registry
    Simons SearchLight
     

Organizations Organizations


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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: info@kcnq2cure.org
    Website: https://www.kcnq2cure.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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.

In-Depth Information

  • 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. 
    Online Mendelian Inheritance in Man (OMIM)
    Online Mendelian Inheritance in Man (OMIM)
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Miceli F & cols. KCNQ2-Related Disorders. GeneReviews. March 31, 2016; http://www.ncbi.nlm.nih.gov/books/NBK32534/.
  2. KCNQ2. Genetics Home Reference. 2013; https://ghr.nlm.nih.gov/gene/KCNQ2#conditions.
Do you know of a review article? We want to hear from you.
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