The findings not only validate the systematic approach to whole - genome sequencing in clinics, they also demonstrate that de novo mutations, otherwise known as spontaneous mutations not inherited by parents, are the main cause of
this severe type of epilepsy.
Many
of the anti-epilepsy drugs currently available have
severe side effects, and there are several
types of intractable
epilepsies that are resistant to all existing medications.
The most common is heart disease, but they also have trick knees (luxating patellas), hip dysplasia, a disease that causes paralysis
of the spine, another disease similar to
epilepsy called Episodic Falling, ear problems and deafness, many
types of eye problems, and about half
of them have a
severe blood disease.