ArtsAutosBooksBusinessEducationEntertainmentFamilyFashionFoodGamesGenderHealthHolidaysHomeHubPagesPersonal FinancePetsPoliticsReligionSportsTechnologyTravel

Key Information About Dravet Syndrome

Updated on July 2, 2019
srirad0675 profile image

Srikanth is passionate about helping people improve their quality of life.

Dravet syndrome is also known as Severe Myoclonic Epilepsy of Infancy (SMEI). A US epidemiology study concluded that it is twice as common as previously recognized, affecting 1:15,700 infants, 80 percent of whom have an SCN1A mutation.

Source

The syndrome was first described in 1982 by a French doctor named Charlotte Dravet and was initially named "severe myoclonic epilepsy of infancy." The name was later changed to honor the doctor who discovered it.

Causes

Dravet syndrome is believed to be caused by a defect in the function of the sodium channels and is described as a form of channelopathy.

This severe form of epilepsy is usually not inherited from parents. Most cases are caused by a mutated gene known as SCN1A. About 80 percent of Dravet syndrome patients have the altered SCN1A gene.

The SCN1A gene belongs to a family of genes which provide instructions to make sodium channels.

These channels, which transport positively charged sodium atoms into cells, play an important role in a cell's ability to generate and transmit electrical signals.

Scientists think that people with Dravet syndrome may have alterations in the serotonin signaling pathway, but exact problems are not known.

Symptoms

Dravet syndrome is characterized by seizures, cognitive deficits, and increased mortality.

This first seizure is usually febrile. These febrile seizures are usually so-called tonic-clonic seizures characterized by stiffness, unconsciousness, and jerking.

In infants with Dravet syndrome, febrile convulsions may be unusually long, sometimes lasting 15 to 30 minutes or longer.

Source

Prognosis

As children with Dravet syndrome get older, their decline in cognitive function stabilizes. The degree of intellectual disability varies widely from mild to profound, yet most teenages and adults with Dravet syndrome are dependent on caregivers.

Diagnosis

Genetic blood tests can screen for SCN1A mutations and a few other mutations linked to Dravet syndrome.

Treatment

Seizures in Dravet syndrome are difficult to control, but can be reduced by anticonvulsant drugs. A ketogenic diet, high in fats and low in carbohydrates, also may be beneficial.

Have you tried keto diet?

See results
Source

Prevention

It is impossible to prevent Dravet syndrome because it is a genetic mutation, with no known causes.

However, if your child is diagnosed with this disease you can prevent potential triggers like fever, illness, or any change of temperature.

One important aspect is to control triggers enabling the child to lead a good quality of life without disabling their daily activities.

  • Dravet syndrome is also called SMEI.
  • It was first described by a French doctor named Charlotte Dravet.
  • It is described as a form of channelopathy.
  • About 80 percent of SMEI patients have the altered SCN1A gene.
  • In infants with SMEI, febrile convulsions sometimes last more than half an hour.
  • Genetic blood tests are used to diagnose Dravet syndrome.
  • Keto diet benefits SMEI patients.
  • It is impossible to prevent Dravet syndrome.

This content is accurate and true to the best of the author’s knowledge and does not substitute for diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed health professional. Drugs, supplements, and natural remedies may have dangerous side effects. If pregnant or nursing, consult with a qualified provider on an individual basis. Seek immediate help if you are experiencing a medical emergency.

© 2019 Srikanth R

Comments

    0 of 8192 characters used
    Post Comment

    No comments yet.

    working

    This website uses cookies

    As a user in the EEA, your approval is needed on a few things. To provide a better website experience, hubpages.com uses cookies (and other similar technologies) and may collect, process, and share personal data. Please choose which areas of our service you consent to our doing so.

    For more information on managing or withdrawing consents and how we handle data, visit our Privacy Policy at: https://hubpages.com/privacy-policy#gdpr

    Show Details
    Necessary
    HubPages Device IDThis is used to identify particular browsers or devices when the access the service, and is used for security reasons.
    LoginThis is necessary to sign in to the HubPages Service.
    Google RecaptchaThis is used to prevent bots and spam. (Privacy Policy)
    AkismetThis is used to detect comment spam. (Privacy Policy)
    HubPages Google AnalyticsThis is used to provide data on traffic to our website, all personally identifyable data is anonymized. (Privacy Policy)
    HubPages Traffic PixelThis is used to collect data on traffic to articles and other pages on our site. Unless you are signed in to a HubPages account, all personally identifiable information is anonymized.
    Amazon Web ServicesThis is a cloud services platform that we used to host our service. (Privacy Policy)
    CloudflareThis is a cloud CDN service that we use to efficiently deliver files required for our service to operate such as javascript, cascading style sheets, images, and videos. (Privacy Policy)
    Google Hosted LibrariesJavascript software libraries such as jQuery are loaded at endpoints on the googleapis.com or gstatic.com domains, for performance and efficiency reasons. (Privacy Policy)
    Features
    Google Custom SearchThis is feature allows you to search the site. (Privacy Policy)
    Google MapsSome articles have Google Maps embedded in them. (Privacy Policy)
    Google ChartsThis is used to display charts and graphs on articles and the author center. (Privacy Policy)
    Google AdSense Host APIThis service allows you to sign up for or associate a Google AdSense account with HubPages, so that you can earn money from ads on your articles. No data is shared unless you engage with this feature. (Privacy Policy)
    Google YouTubeSome articles have YouTube videos embedded in them. (Privacy Policy)
    VimeoSome articles have Vimeo videos embedded in them. (Privacy Policy)
    PaypalThis is used for a registered author who enrolls in the HubPages Earnings program and requests to be paid via PayPal. No data is shared with Paypal unless you engage with this feature. (Privacy Policy)
    Facebook LoginYou can use this to streamline signing up for, or signing in to your Hubpages account. No data is shared with Facebook unless you engage with this feature. (Privacy Policy)
    MavenThis supports the Maven widget and search functionality. (Privacy Policy)
    Marketing
    Google AdSenseThis is an ad network. (Privacy Policy)
    Google DoubleClickGoogle provides ad serving technology and runs an ad network. (Privacy Policy)
    Index ExchangeThis is an ad network. (Privacy Policy)
    SovrnThis is an ad network. (Privacy Policy)
    Facebook AdsThis is an ad network. (Privacy Policy)
    Amazon Unified Ad MarketplaceThis is an ad network. (Privacy Policy)
    AppNexusThis is an ad network. (Privacy Policy)
    OpenxThis is an ad network. (Privacy Policy)
    Rubicon ProjectThis is an ad network. (Privacy Policy)
    TripleLiftThis is an ad network. (Privacy Policy)
    Say MediaWe partner with Say Media to deliver ad campaigns on our sites. (Privacy Policy)
    Remarketing PixelsWe may use remarketing pixels from advertising networks such as Google AdWords, Bing Ads, and Facebook in order to advertise the HubPages Service to people that have visited our sites.
    Conversion Tracking PixelsWe may use conversion tracking pixels from advertising networks such as Google AdWords, Bing Ads, and Facebook in order to identify when an advertisement has successfully resulted in the desired action, such as signing up for the HubPages Service or publishing an article on the HubPages Service.
    Statistics
    Author Google AnalyticsThis is used to provide traffic data and reports to the authors of articles on the HubPages Service. (Privacy Policy)
    ComscoreComScore is a media measurement and analytics company providing marketing data and analytics to enterprises, media and advertising agencies, and publishers. Non-consent will result in ComScore only processing obfuscated personal data. (Privacy Policy)
    Amazon Tracking PixelSome articles display amazon products as part of the Amazon Affiliate program, this pixel provides traffic statistics for those products (Privacy Policy)
    ClickscoThis is a data management platform studying reader behavior (Privacy Policy)