Verein für Menschen mit Gendefekt auf CACNA1E


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Cacna1e

developmental epileptic encephalopathy (DEE) type 69


CACNA1E - Martin

 

Most of our kids can't walk or talk.

They have to deal with serious health issues like

  • Epilepsy: life-threatening seizures
  • Dystonia: involuntary body movements that are often painful
  • Muscle weakness, to the extent of being unable to move at all
  • Autism
  • Severe sleep problems
  • Neurodegeneration: brain cells are dying

              and/or

  • Development delay or no development at all

CACNA1E - Martin

We are a group of passionate parents from all over the world

coming together to fund life-changing research on CACNA1E.

 

We plan to bring families, doctors and the world's

best scientists together in a collaborative effort.

 

There is already research underway in a renowned clinic in Germany,

aiming to develop a drug specialized in treating CACNA1E.

We support this research not only with financial resources,
but also with presence and public relations work.

 

Our kids need a targeted treatment and cure.
Be part of our mission, show solidarity, donate
and help us become better known worldwide!

 


PARTICIPATE IN THE NATURAL HISTORY STORY

TO HELP RESEARCH GAIN A BETTER UNDERSTANDING FOR DEE69 

AND OPTIMIZE TARGETED TREATMENTS!


Where in the world is a CACNA1E Family?

Our association aims to make a register of all current CACNA1E patients in the world.

So if you or your child have been diagnosed, we would be pleased if you contact us!

Have you been diagnosed with CACNA1E? We invite you to contact us at info@cacna1e.org
or send us a Membership Application at membership@cacna1e.org!


RARE DISEASE RUN 2025 - RUN FOR TEAM CACNA1E


About CACNA1E

There are various variants of CACNA1E, some more severe than others.

Read all about the symptoms that might occur with this genetic mutation.

KIdS

Meet our brave warriors.
Life hit them so hard,

as well as their caring parents

who wrote down their stories.

Become a Member!

Become a member of CACNA1E International!

Either as a Member of Honor, an Active Member or a Member of Solidarity!