Epilepsy

Around 20% of people with SAS also have epilepsy. This usually starts before the age of seven. The most common seizure type is focal seizure with impaired consciousness. This presents as staring, reduced responsiveness and automated behaviours (fidgeting, aimlessly walking around), and typically lasts a few minutes. Other seizure types are also possible, mostly generalized tonic-clonic seizures (grand mal) or atonic seizures (suddenly falling down).
In a minority (±20%) of children with SAS and epilepsy, there is also a specific kind of epilepsy during sleep: electrical status epilepticus in sleep (ESES) or by another name continuous spikes and waves during slow sleep (CSWS). This cannot be observed as seizures, but is visible on the EEG (electro-encephalogram) during sleep. When this is present it’s important to treat it, as it may lead to cognitive regression and behavioural issues.
In the only study in people with SAS so far, there was no relationship between abnormalities on brain MRI and epilepsy (the presence of clinical seizures).

Management:
When epileptic seizures are suspected, a (child) neurologist can do diagnostic investigations. This includes an EEG, which should preferably include sleep stages. For some children it’s very difficult or impossible to tolerate the electrodes being attached to their scalp or to leave them in place. Unfortunately, an EEG cannot be done under general anesthesia or other forms of sedation, as this influences brainwaves and renders the investigation useless.
Treatment is with standard antiseizure medication, tailored to the type of seizures. No drug has yet been demonstrated to be specifically effective for seizures in SAS. Most antiseizure drugs seem to be tolerated well in SAS, with the exception of levetiracetam, which is frequently discontinued because of aggressive behaviours.
See also: *Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome

The content provided by this website is for educational, communication and information purposes only and is not intended to replace or constitute medical advice or treatments. Always consult with your licensed healthcare provider.

Frequently asked questions

Simple answers for families, supporters, and professionals who want to learn more about SAS and SATB2 Europe.

What is SATB2-associated syndrome?

SATB2-associated syndrome, or SAS, is a rare genetic neurodevelopmental condition caused by changes in the SATB2 gene. It can affect development, speech, learning, behavior, dental health, sleep, seizures, feeding, and bone health.

What are common signs of SAS?

Common features can include developmental delay, limited or absent speech, dental differences, feeding difficulties, sleep challenges, behavioral differences, seizures, and bone health concerns. Not every person has the same symptoms, and the severity can vary widely.

How is SAS diagnosed?

SAS is usually diagnosed through genetic testing. A diagnosis is made when a disease-causing change, deletion, duplication, or disruption involving the SATB2 gene is found. Families should discuss testing and results with a qualified medical professional or genetic counselor.

Is there a cure for SAS?

There is currently no simple cure for SAS. Care usually focuses on supporting development, communication, feeding, sleep, seizures, dental health, bone health, and other individual needs. Research and clinical guidance are important parts of improving future care.

How are donations used?

Donations help support SATB2 Europe’s work in family support, awareness, research collaboration, clinical guidance, and community-building for people affected by SAS.