SCN8A epileptic encephalopathy is caused by a mutation of this gene. It is a very rare pathology, among other reasons, for being underdiagnosed. Different variants of SCN8A may be associated with a very broad phenotype spectrum; from patients with severe encephalopathy, with fully non-treatable epileptic seizures that begin in the first months of life, to cases of patients without epilepsy, although with behavioral disorders and cognitive deficits.

“The Cute Syndrome Foundation” is an American organization that works to give visibility to this genetic disorder, financing researchers to improve their understanding and for the development of treatments that enhance the quality of life of those affected. In fact, a clinical trial is already being developed by the company Xenon, with a drug designed for SCN8A patients.

But the United States is far away and here in Spain, we have just a few cases, only three. To join forces we have proposed to our friends from Portugal, who are also three families, to create a Facebook page where we are all identified. We want to gather the largest number of people affected. We must be interesting for pharmaceutical companies. First of all, we must know how many we are. And together be visible and thus attract to our country the clinical trials that are being carried out in others.

It is a very rare pathology, among other reasons, for being underdiagnosed.

Here the link to our Facebook page. We ask for maximum diffusion. We invite all those affected to join us. Thank you.

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El usuario que cumplimenta la información requerida en el presente formulario declara estar legitimado para ello y se hace responsable exclusivo de la veracidad e integridad de los datos e información que introduce, exonerando expresamente a MJN NEUROSERVEIS de cualquier responsabilidad que pudiera generarse para esta entidad con ocasión de la información facilitada a través del presente formulario.

Sí, acepto

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The next Saturday 21st of November at 4 pm, you will be able to know first hand our product: mjn-SERAS.
mjn-SERAS is a healthcare product that sends a warning signal when the risk of epileptic seizures is high, to the affected person and their trusted contacts.

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    mjn-SERAS is a medical device with CE marking according to the European Directive 93/42/EEC and the Royal Decree RD. 1591/2009.
    Contraindications: Do not use the product if you suffer from an infection in the ear canal or if you suffer from a skin lesion in the vicinity of the product's area of influence.
    Considerations: This medical product works with an APP only on Android phones. The results tested are 96% sensitivity and 94% specificity.
    CPSP20103CAT.

    Save the date

    El próximo sábado 21 de noviembre a las 4 de la tarde, podrás conocer de primera mano nuestro producto: mjn-SERAS.
    mjn-SERAS es un producto sanitario que lanza una señal de aviso cuando el riesgo de crisis de epilepsia es elevado, a la persona afectada y a sus contactos de confianza.

    ¡Inscríbete!

      mjn-SERAS es un producto sanitario con marcado CE conforme a la Directiva Europea 93/42/EEC y el Real Decreto RD. 1591/2009.
      Contraindicaciones: No usar el producto en caso de padecer una infección en el canal auditivo o en caso de padecer una lesión cutánea en las proximidades del área de influencia del producto.
      Consideraciones: Este producto sanitario funciona con una APP solo en teléfonos Android. Los resultados testeados son 96% de sensibilidad y 94% de especificidad.
      CPSP20103CAT.