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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in several genes, including some that have not been identified, can cause GEFS+. The most commonly associated gene is SCN1A. More than 80 percent of Dravet syndrome cases and about 10 percent of other GEFS+ cases are caused by changes in this gene. Mutations in other genes have been found in only a small number of affected individuals or families.</p><p>The SCN1A gene and others associated with GEFS+ provide instructions for making pieces (subunits) of channels that transport positively charged sodium atoms (sodium ions) into cells. The transport of these ions helps generate and transmit electrical signals between nerve cells (neurons). Proteins produced from other genes involved in GEFS+ are subunits of another type of ion channel called the GABAA receptor. GABAA receptor channels block (inhibit) signaling between neurons. Still other GEFS+-associated genes are also involved in nerve signaling.</p><p>Mutations in the SCN1A gene have a variety of effects on sodium channels. Many mutations that cause Dravet syndrome reduce the number of functional channels in each cell. Mutations that cause the milder GEFS+ disorders likely alter the channel&#x27;s structure. All of these genetic changes affect the ability of the channels to transport sodium ions into neurons. Some mutations are thought to reduce channel activity while others may increase it. It is unclear, however, how these changes underlie the development of seizures. Some studies show that certain SCN1A gene mutations cause signaling between neurons to be constantly turned on (stimulated). Researchers believe that overstimulation of certain neurons in the brain triggers the abnormal brain activity associated with seizures. It is not known if all SCN1A gene mutations have the same effect.</p><p>Changes in GABAA receptor subunit genes impair the channel&#x27;s function, causing uncontrolled signaling between neurons, which likely leads to seizures.</p><p>Researchers do not understand how changes in any one of the genes associated with GEFS+ can lead to a range of seizure disorders. Because the disorders are so varied, even among family members, researchers believe that other genes and environmental factors help determine the severity of the condition.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/genetic-epilepsy-with-febrile-seizures-plus/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Genetic epilepsy with febrile seizures plus?"},{"bodyHtml":"<p>The most common and mildest feature of the GEFS+ spectrum is simple febrile seizures, which begin in infancy and usually stop by age 5. When the febrile seizures continue after age 5 or other types of seizure develop, the condition is called febrile seizures plus (FS+). Seizures in FS+ usually end in early adolescence.</p><p>A condition called Dravet syndrome (also known as severe myoclonic epilepsy of infancy or SMEI) is often considered part of the GEFS+ spectrum and is the most severe disorder in this group. Affected infants typically have prolonged seizures lasting several minutes (status epilepticus), which are triggered by fever. Other seizure types, including afebrile seizures, begin in early childhood. These types can include myoclonic or absence seizures. In Dravet syndrome, these seizures are difficult to control with medication, and they can worsen over time. A decline in brain function is also common in Dravet syndrome. Affected individuals usually develop normally in the first year of life, but then development stalls, and some affected children lose already-acquired skills (developmental regression). Many people with Dravet syndrome have difficulty coordinating movements (ataxia) and intellectual disability.</p><p>Some people with GEFS+ have seizure disorders of intermediate severity that may not fit into the classical diagnosis of simple febrile seizures, FS+, or Dravet syndrome.</p><p>Family members with GEFS+ may have different combinations of febrile seizures and epilepsy. For example, one affected family member may have only febrile seizures, while another also has myoclonic epilepsy. While GEFS+ is usually diagnosed in families, it can occur in individuals with no history of the condition in their family.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/genetic-epilepsy-with-febrile-seizures-plus\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"genetic-epilepsy-with-febrile-seizures-plus","sourceDocuments":[{"name":"Genetic epilepsy with febrile seizures plus","reviewed":"2017-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:43.705861+00:00","label":"Causes","pageSha256":"e8a7d8ff4ba370a365b4a8251c941c09f702842a5ed6dfdfabab5d5f13d753a3","sourceUrl":"https://medlineplus.gov/genetics/condition/genetic-epilepsy-with-febrile-seizures-plus/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/genetic-epilepsy-with-febrile-seizures-plus"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Genetic epilepsy with febrile seizures plus"},"schemaVersion":1}