KCNQ2-Related Disorders

Información en español Title

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

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

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 32 |

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 seizures		0010818
30%-79% of people have these symptoms
Abnormal globus pallidus morphology		0002453
Apnea		0002104
Cerebral edema	Swelling of brain	0002181
Dystonia		0001332
Epileptic spasms		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
Autosomal recessive inheritance		0000007
Cerebral atrophy	Degeneration of cerebrum	0002059
Febrile seizures	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
Focal clonic seizures		0002266
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Generalized tonic-clonic seizures	Grand mal seizures	0002069
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Myokymia		0002411
Neonatal onset		0003623
Seizures	Seizure	0001250
Spastic tetraparesis		0001285

Showing of 32 |

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

Last updated: 11/1/2018

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

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.

Research Research

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

The International KCNQ2 Encephalopathy Patient Registry is being established as a collaborative effort between medical researchers and the KCNQ2 Cure Alliance. The database will have a worldwide reach in collecting information from families on their child’s specific genetic and clinical presentation and that data (in a de-identified format) will be accessible to all professionals aiding in our mission to find a cure for KCNQ2 EOEE. The KCNQ2 Cure Alliance also intends to make this data available to families to aid in their role as caregivers.
The RIKEE Project is a variant database focusing attention on key issues related to KCNQ2/3-related illness. This database is maintained by the RIKEE Network, an international collaboration of clinical and laboratory-based scientists focused on developing new understanding and treatments for KCNQ2-related disorders. Parents, patients, and medical caregivers interested in registry participation or referral may contact KCNQ2info@bcm.edu for more information.

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

KCNQ2 Cure Alliance
3700 Quebec Street
Unit 100-118
Denver, CO 80207
E-mail: info@kcnq2cure.org
Website: www.kcnq2cure.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.

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.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

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.