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Disease Profile
KCNQ2-Related Disorders
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.
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Age of onset
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ICD-10
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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
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
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
|
---|---|---|
100% of people have these symptoms | ||
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
80%-99% of people have these symptoms | ||
0010851 | ||
Epileptic |
0200134 | |
Generalized tonic |
0010818 | |
30%-79% of people have these symptoms | ||
Abnormal globus pallidus morphology | 0002453 | |
Apnea | 0002104 | |
Cerebral edema |
Swelling of brain
|
0002181 |
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 |
Low or weak muscle tone
|
0001252 |
Pallor | 0000980 | |
Poor gross motor coordination | 0007015 | |
Profound global |
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 |
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 | ||
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 |
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/
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.
References
- Miceli F & cols. KCNQ2-Related Disorders. GeneReviews. March 31, 2016; https://www.ncbi.nlm.nih.gov/books/NBK32534/.
- KCNQ2. Genetics Home Reference. 2013; https://ghr.nlm.nih.gov/gene/KCNQ2#conditions.