Gijs (2021)

CACNA1E c.4274C>A p.(Thr1425Asn)

This cheerful boy is Gijs. He was born in July 2021 after a normal pregnancy. Everything went well for the first 3 months and Gijs developed like a normal baby. After 3 months the development started to stagnate and at the age of 5 months he had his first infantile spasms. After a long hospital stay, the CACNA1E gene mutation was finally found.

After the spasms he eventually developed tonic seizures. When Gijs was 2 years old, his epilepsy was controlled and he has now been seizure-free for over a year. Furthermore, he has very low muscle tone. He has no head and trunk balance and is dependent on others for everything.

Gijs is a very cheerful boy with a beautiful smile. He enjoys people around him and good food.