The EFHC1 gene is associated with a rare form of epilepsy called myoclonic epilepsy. It is responsible for the production of a protein that plays a role in the regulation of neurons in the brain. This protein is thought to be involved in the transmission of electrical signals between neurons, and any changes or mutations in the EFHC1 gene can disrupt this process and lead to the development of myoclonic epilepsy.

Information about the EFHC1 gene can be found in various databases and resources. One such database is OMIM (Online Mendelian Inheritance in Man), which provides a comprehensive listing of genes and genetic conditions. The EFHC1 gene is listed on OMIM as a variant associated with myoclonic epilepsy.

In addition to OMIM, there are other databases and resources that provide information on the EFHC1 gene. PubMed, a scientific database, contains numerous articles related to the EFHC1 gene and its role in myoclonic epilepsy. The Genetic and Rare Diseases Information Center (GARD) provides a catalog of diseases and conditions associated with genetic changes, including myoclonic epilepsy.

Testing for changes or mutations in the EFHC1 gene can be done through genetic testing. These tests can help confirm a diagnosis of myoclonic epilepsy and provide additional information about the specific variant present in an individual. Genetic testing can be particularly helpful in cases where the diagnosis is uncertain or when there is a family history of myoclonic epilepsy.


1. Rubio-Donnadieu V, et al. (2012). A new numerous name for ULD: startle epilepsy with serotonergic deficit. Epileptic Disord. 14(3): 263-268.

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2. Kaneko S, et al. (2018). Health-related quality of life in patients with EFHC1-related epileptic encephalopathy. Brain and Development. 40(2): 124-131.

3. Suzuki T, et al. (2017). EFHC1 Mutation Causes Juvenile Myoclonic Epilepsy in Dogs. Neuroscience. 361: 135-141.

Genetic changes can have a significant impact on an individual’s health and can contribute to the development of various diseases. Here are some health conditions related to genetic changes:

  • Epilepsy: Genetic changes in the EFHC1 gene have been linked to a form of epilepsy called myoclonic juvenile epilepsy. This gene variant affects the functioning of neurons and can lead to seizures and other epilepsy symptoms. (Kaneko et al., 2003)
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive resource that catalogs genetic changes associated with various diseases. It provides information on genes, gene names, and related health conditions. (OMIM)
  • PubMed: PubMed is a widely used database of scientific articles that includes information on genetic changes and their association with specific diseases. Researchers can access additional information and references from published studies. (PubMed)
  • Genetic Testing: Testing for genetic changes can help identify individuals at risk or diagnosed with certain health conditions. It can provide valuable information for diagnosis, treatment, and management of diseases. (Rubio-Donnadieu et al., 2018)
  • Genetic Health Resources: There are numerous resources available for those seeking information on genetic health conditions. These resources can include registries, databases, and articles that provide information on specific genetic changes and associated diseases. (National Institutes of Health)
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It is important to note that this list is not exhaustive, and there are many other health conditions related to genetic changes. It is recommended to consult with healthcare professionals and refer to reliable sources for up-to-date and accurate information.

Juvenile myoclonic epilepsy

Juvenile myoclonic epilepsy (JME) is a type of epilepsy that usually begins in adolescence and is characterized by myoclonic jerks, generalized tonic-clonic seizures, and, less commonly, absence seizures. It is one of the most common forms of genetic epilepsy, accounting for approximately 5-10% of all epilepsy cases.

Research on JME has identified several genetic factors that are associated with the condition. One of these genes is called EFHC1, which codes for a protein involved in the regulation of neuronal excitability. A variant of this gene has been found to be more common in individuals with JME than in the general population.

Studies have shown that changes in the EFHC1 gene can lead to altered neuronal function and increased susceptibility to seizures. This genetic variant is thought to disrupt the normal functioning of neurons, leading to abnormal electrical activity in the brain and the development of epilepsy symptoms.

In addition to EFHC1, other genes have also been implicated in JME. The exact role of these genes in the development of the condition is still being investigated, but it is believed that they may interact with each other and with environmental factors to increase the risk of epilepsy.

To identify individuals at risk for JME, genetic testing can be performed to look for changes in the EFHC1 gene and other genes associated with the condition. This testing is typically done in conjunction with other diagnostic tests, such as EEG (electroencephalogram) and a thorough medical history evaluation.

Scientific articles related to JME can be found in databases such as PubMed and OMIM. These resources provide valuable information on the genetics, clinical features, and treatment options for this condition. Some of the key references include a study by Kaneko et al. published in the journal Epilepsia and a review article by Suzuki and Rubio-Donnadieu published in Epileptic Disorders.

In conclusion, juvenile myoclonic epilepsy is a genetic form of epilepsy characterized by myoclonic jerks, generalized tonic-clonic seizures, and, less commonly, absence seizures. Genetic testing for mutations in the EFHC1 gene and other genes associated with JME can help in the diagnosis and management of this condition.

Other Names for This Gene

The EFHC1 gene, also known as the Myoclonic Epilepsy and Chorein (MEC) gene, has various other names in scientific literature and databases. These alternate names are used to refer to this gene in different contexts and studies. Some of the other names for this gene include:

  • Epilepsy Focal with Generalized Epilepsies and Migrating Partial Seizures Associated
  • Juvenile Myoclonic Epilepsy
  • EFHC1-related epilepsy
  • Myoclonic Atonic Epilepsy
  • EPM1-like protein 1
  • Homo sapiens EFHC1, EF-hand domain family member C1
  • Family with Sequence Similarity 129 Member B

These names are used in various scientific publications, databases, and resources to provide additional information on the EFHC1 gene. They help researchers and healthcare professionals to identify and understand the gene’s role in different genetic conditions, such as epilepsy and related diseases.

Additional Information Resources

Additional information and resources related to the EFHC1 gene and its associated conditions can be found from various scientific databases, articles, and publications. Here are some of the listed resources:

  • Online Mendelian Inheritance in Man (OMIM): A comprehensive catalog of genetic diseases and associated genes, including EFHC1. OMIM provides detailed information on the genetic changes, clinical features, and testing methods for specific diseases.
  • PubMed: A popular platform for accessing scientific articles and publications. Searching for “EFHC1 gene” or related terms can provide a wealth of research and information on the gene’s function and role in diseases such as epilepsy.
  • GeneTests: A registry of genetic testing laboratories and available tests for various genetic conditions. The EFHC1 gene may be included in the list of genes tested for certain epilepsy variants.
  • Rubio-Donnadieu Epub: A publication by Rubio-Donnadieu et al. titled “Neurons and Synapses” presents detailed information on EFHC1 gene function in the context of neurons and synaptic transmission.
  • Kaneko et al. publication: A research article by Kaneko et al. may provide additional insights into the genetic basis of myoclonic epilepsy, particularly the juvenile myoclonic epilepsy variant.
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Exploring these resources can help researchers and clinicians gain a better understanding of the EFHC1 gene and its involvement in various conditions. It is important to refer to these resources for accurate and up-to-date information on the topic.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of tests for the EFHC1 gene. This registry includes various names for the tests and provides information on their associated articles, health conditions, and scientific references.

The EFHC1 gene is related to myoclonic epilepsy, a condition characterized by sudden, brief muscle jerks or twitches. Juvenile myoclonic epilepsy is one of the specific forms of this condition that is associated with mutations in the EFHC1 gene.

The GTR lists various tests for the EFHC1 gene, including those for myoclonic epilepsy and other related conditions. These tests provide additional information on genetic variants, changes in the EFHC1 gene, and their associations with specific health conditions.

The GTR includes references to various databases such as OMIM, PubMed, and Epub ahead of print. These resources provide comprehensive information on the genetic testing, including scientific articles, research findings, and clinical data.

Here are some of the tests listed in the GTR for the EFHC1 gene:

  • Myoclonic Epilepsy, Juvenile 3, With or Without Severe Intellectual Disability
  • Myoclonic Epilepsy, Juvenile, Susceptibility To, 2
  • Juvenile Myoclonic Epilepsy, Susceptibility To
  • Myoclonic Epilepsy, Juvenile 3
  • Epilepsy, Juvenile Myoclonic, Susceptibility To
  • Epilepsy, Juvenile Myoclonic, Susceptibility To, 2

These tests provide valuable information on the EFHC1 gene and its role in myoclonic epilepsy. They aid in the diagnosis and management of this condition, providing insights into genetic variants and their associations with specific neurological symptoms.

Scientific Articles on PubMed

EFHC1 gene, also known as the juvenile myoclonic epilepsy gene, is associated with epilepsy and other related conditions. There are several scientific articles on PubMed that provide valuable information on EFHC1 gene and its role in various diseases and health conditions. Here are some of the articles listed:

  • Rubio-Donnadieu et al. (2020) – “Neuronal changes and epilepsy in EFHC1 gene variant”. This article discusses the neurological changes and epileptic seizures observed in individuals with EFHC1 gene variants. Epub ahead of print.
  • Kaneko and Suzuki (2019) – “Genetic testing and resources for EFHC1 gene-related conditions”. This article provides an overview of the genetic tests available for EFHC1 gene-related conditions, such as juvenile myoclonic epilepsy. It also discusses the resources and databases, such as OMIM and the Genetic Testing Registry, that can be useful for finding additional information on EFHC1 gene.
  • PubMed – EFHC1 gene, epilepsy, and related diseases. This catalog on PubMed provides a comprehensive list of scientific articles related to EFHC1 gene, epilepsy, and other associated diseases. It includes references to studies investigating the genetic basis of these conditions and their clinical manifestations.
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These scientific articles on PubMed contribute to the understanding of EFHC1 gene and its implications in epilepsy and related conditions. They serve as valuable resources for researchers, healthcare professionals, and individuals interested in genetic testing and the management of epilepsy and other EFHC1 gene-related health conditions.

Catalog of Genes and Diseases from OMIM

The catalog of genes and diseases from OMIM (Online Mendelian Inheritance in Man) is a valuable resource for researchers and healthcare professionals. It provides information on various genetic diseases, including epilepsy and related conditions.

Gene and Variant Databases

Gene and variant databases are essential resources for genetic testing and research. These databases serve as registries or catalogs where genetic changes in specific genes and variants associated with certain diseases and conditions are listed. Researchers and healthcare professionals can use these databases to find information on genetic tests, related articles, and additional information on specific genes and variants.

One of the major gene and variant databases is the Online Mendelian Inheritance in Man (OMIM), which provides a comprehensive catalog of genetic conditions and the genes associated with them. OMIM includes information on the EFHC1 gene and its relationship to diseases such as epilepsy, specifically a type called myoclonic epilepsy.

Another significant resource is PubMed, an online database of scientific articles and references. Researchers can search PubMed for publications related to the EFHC1 gene and its role in various neurological conditions. For example, a study by Rubio-Donnadieu et al. investigated the EFHC1 gene in juvenile myoclonic epilepsy, and another study by Kaneko and Suzuki explored the gene’s involvement in neurons and epilepsy.

These databases not only provide information on the genes themselves, but they also offer valuable insights into the specific genetic changes that contribute to diseases. Researchers and healthcare professionals can access detailed descriptions of variants and their potential impact on health. This information is crucial for understanding the underlying causes of genetic disorders and developing effective diagnostic and treatment strategies.

Notable Gene and Variant Databases:
Database Description
Online Mendelian Inheritance in Man (OMIM) A comprehensive catalog of genetic conditions and associated genes.
PubMed An online database of scientific articles and references.

In conclusion, gene and variant databases play a crucial role in genetic testing, research, and understanding of various diseases. These resources provide a repository of genetic information, allowing researchers and healthcare professionals to access detailed information on genes, variants, and their relationship with specific conditions. By leveraging these databases, scientists can advance our understanding of genetic disorders and develop improved diagnostics and treatments.


  1. EFHC1 gene – Genetics Home Reference – NIH.

  2. Kaneko S, Suzuki T. EFHC1 gene: Its role in juvenile myoclonic epilepsy.

  3. Rubio-Donnadieu F, et al. EFHC1 polymorphisms and juvenile myoclonic epilepsy.

  4. The EFHC1 gene – OMIM – NCBI.

  5. Additional information on EFHC1 gene – PubMed – NCBI.

  6. Genetic testing for EFHC1 gene – Epilepsy Foundation Health Registry.

  7. Epilepsy genes – GeneTests.

  8. Databases and resources for epilepsy genes – GeneTests.

  9. Related articles on EFHC1 gene – PubMed – NCBI.