Angelman syndrome is a rare genetic disorder characterized by neurological and developmental problems, among other symptoms. More than 90% of patients experience epileptic seizures, which can be dangerous.
However, several methods can help control seizures in patients with Angelman syndrome.
A study of epilepsy in Angelman syndrome patients indicated that the best therapeutic response was obtained with valproate alone or in combination with phenobarbital or clonazepam. However, the researchers noted that some medications were ineffective (or exacerbated seizures). These medications, which should not be used for Angelman syndrome patients, were carbamazepine, oxcarbazepine, and vigabatrin.
A ketogenic diet — high in fat and low in carbohydrates — is sometimes effective at controlling or reducing the number of seizures, especially in children who do not respond to medication. Before starting any diet, talk to both a registered dietitian and your treatment team to establish the best diet for your child.
Vagus nerve stimulation
Vagus nerve stimulation (VNS) is a procedure where a small device applies an electrical stimulus to the vagus nerve to try and halt seizures before they happen. VNS may be effective for patients with Angelman syndrome, especially in addition to anti-seizure medications. The surgery involves implanting a device similar in size to a pacemaker. The device sends regular electrical signals to the vagus nerve in the neck to disrupt seizure activity in the brain.
Although still experimental, researchers think that gene therapy for Angelman syndrome may be able to reduce seizure activity. In this approach, the idea is to introduce a healthy copy of the mutant gene that causes Angelman syndrome into patients’ cells. Supplying the healthy UBE3A gene is thought to potentially reduce or even abolish the symptoms, including seizures.
Last updated: May 14, 2020
Angelman Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
We are sorry that this post was not useful for you!
Let us improve this post!
Tell us how we can improve this post?