Autism and Epilepsy: CNTNAP2 a Newly-Found Marker Associated with Both Conditions

Children with autism have low levels of CNTNAP2, a protein that calms hyperactive brain cells. This deficiency could promote the development of epilepsy in young patients.



About 30-50% of children with autism also have epilepsy. This chronic disease is characterized by neurological symptoms that occur during sudden and repeated seizures. There are three types of seizures: generalized seizures (falling, loss of consciousness, stiffening of the body followed by muscle contractions), partial seizures (with different aspects: motor, sensory, etc.), and status epilepticus (partial or generalized seizures that correspond to a rapid succession of seizures, one of which occurs before the previous one has recovered).

Read Also: Flame Retardants May Cause Autism According to University of California Riverside Study

CNTNAP2 protein is present in cerebrospinal fluid

Children with autism who are more likely to have epilepsy have low levels of catnap2, also known as CNTNAP2, according to a new study published in the journal Neuron. This is a protein that brain cells produce when they are hyperactive to calm them down. However, if children with autism don’t have enough CNTNAP2, their brains won’t calm down, which leads to seizures and then epilepsy. Scientists, therefore, believe that catnap2 is a new marker of autism.

Towards new treatments and early diagnosis

To reach this result, the researchers analyzed cerebrospinal fluid from people with autism and epilepsy, as well as in mouse models. We can replace CNTNAP2, explains Peter Penzes, one of the study’s authors. We can produce it in the lab and we should be able to inject it into the cerebrospinal fluid of children. The discovery of CNTNAP2’s role in the brain could therefore be the beginning of several scientific advances: earlier diagnosis of autism and epilepsy, but also the possibility of better treatment for these children and, not least, the development of new treatments targeting catnap2.

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Autism and epilepsy: treatments not always effective

In 1943, Leo Kanner described autism as a predominant non-communication with the outside world in young children, manifested by eye avoidance. Today, autism is part of a larger group known as Autism Spectrum Disorder (ASD). Other characteristics include reduced social interaction, communication problems (nonverbal and speech), behavioral problems, and unusual sensory responses. Children with an autism spectrum disorder usually have difficulty with learning and social integration. There are currently a variety of treatments however, depending on the child, they are not always effective. When it comes to treating epilepsy, patients must take a variety of medications to alleviate or even eliminate their seizures. Again, though, not all patients take them. For about 30% of them, these medications don’t work. So whether it’s autism or epilepsy, this study offers new hope for all young patients with autism or epilepsy.

Read Also: Brain Implants Used to Treat Epilepsy Do Not Change Personality in Patients


Shed CNTNAP2 ectodomain is detectable in CSF and regulates Ca2+ homeostasis and network synchrony via PMCA2/ATP2B2



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