Seizures in Angelman Syndrome with Dr. Ron Thibert

Quick Overview

Dr. Ron Thibert, director of the Angelman Syndrome Clinic at Mass General, discussed seizures in Angelman Syndrome at a conference. He highlighted that seizures in this syndrome depend on the genetic type and often start around the age of three. They can come in clusters and may cause developmental regression. Diagnosis and monitoring are done through EEGs. Treatment includes medication like Epidiolex, derived from marijuana, and a low glycemic diet. Other medications like Banzel, Divalproex, Keppra, Diastat, Ativan, Valium, and nasal valium can also be used. Estrogen worsens seizures, while progesterone improves them in girls during puberty. Seizures can improve with puberty but may continue into adulthood. Chronic use of seizure medications can increase the risk of osteoporosis. Non-epileptic myoclonus should be treated as it can impact quality of life. Families are encouraged to reach out to Angelman syndrome clinics for care and support.

Dr. Ron Thibert, the director of the Angelman Syndrome Clinic at Mass General, spoke at the conference about seizures in Angelman Syndrome. Here are the key points from his talk:


  • Dr. Ron Thibert is excited to be a panelist at the conference, along with Liz Jalazo.
  • The conference is taking place on a Friday night.
  • Attendees are encouraged to sign up for express feedback for good.

Seizures in Angelman Syndrome

  • Seizures in Angelman Syndrome depend on the genetic type, with deletions having the highest risk.
  • Seizures often start around the age of three, with the first seizures often occurring with fever.
  • Different types of seizures include generalized tonic-clonic seizures, atonic seizures, absence seizures, and myoclonic seizures.
  • Seizures in Angelman Syndrome often come in clusters and can be accompanied by developmental regression.
  • Families should record seizures and consult with their doctor for evaluation and treatment.
  • EEGs are used to diagnose and monitor seizures, with longer EEGs recommended for unclear events.
  • The Angelman Syndrome Foundation provides resources and information on seizures.

Medication and Treatment

  • Epidiolex, derived from marijuana, is an effective medication for seizures in Angelman Syndrome.
  • Epidiolex has minimal side effects, including fatigue and diarrhea.
  • Insurance coverage for Epidiolex has improved over time.
  • Epidiolex is comparable to other seizure medications like Banzel and Divalproex.
  • The speaker recommends a low glycemic diet as an adjunctive treatment for seizures.
  • Keppra dosing can be increased if blood levels are lower than expected.
  • Diastat may not work for all individuals with breakthrough seizures, and alternative medications like Ativan or nasal valium can be considered.
  • Valium and Epidiolex are commonly used for seizures, but not for everyone.
  • Insurance coverage and school acceptance of intranasal medications can vary.
  • Estrogen worsens seizures, while progesterone improves seizures in girls with Angelman syndrome during puberty.
  • Seizures can occur before or during periods, and can be managed with medication or birth control pills.
  • Seizures tend to improve with puberty, but some individuals may continue to have seizures into adulthood.
  • Seizure medications can be tapered or stopped if seizures have been controlled for a long period of time.
  • Multiple medications can sometimes lead to developmental plateaus or regression, and it’s important to find the right balance.
  • Some seizure medications can have side effects such as loss of appetite or weakened tooth enamel.
  • Chronic use of seizure medications can increase the risk of osteoporosis, but it’s more common with older medications like phenobarbital and Tegretol.
  • Non-epileptic myoclonus can be treated and should not be ignored, as it can significantly impact quality of life.
  • It’s generally safe for a child to sleep after a seizure, as seizures during sleep are uncommon in Angelman syndrome.
  • If a child has a seizure during sleep, it’s usually because they woke up and had a seizure, and it’s likely to wake up the parent as well.
  • Seizure medications can cause side effects, but working closely with a neurologist can help find the right balance and address any concerns.

Resources and Support

  • Families can reach out to Angelman syndrome clinics for specialized care and support.
  • The ASF website has resources and publications on seizures and non-epileptic myoclonus in Angelman syndrome.
  • It’s important to work with healthcare professionals to address any concerns or questions about seizures and their management.

Talk details

  • Title: Seizures in AS with Ron Thibert
  • Author(s): Ron Thibert
  • Author(s)’ affiliation: Massachusetts General Hospital
  • Publication date: 2021-08-11
  • Collection: 2021 ASF Virtual Family Conference