Seizure Treatments in Angelman Syndrome: A Summary of Dr. Ron Thibert’s Talk

Quick Overview

Dr. Ron Thibert discussed seizure treatments for Angelman syndrome at the 2015 ASF Family Conference. He explained that seizures in Angelman syndrome are caused by abnormalities in the UBE3A and GABA receptor genes. Seizure medications can be categorised as broad spectrum or non-broad spectrum, with the former being preferred due to their ability to treat a wider range of seizure types. Commonly used medications include Depakote, Felbatol, Zonegran, Topamax, Lamictal, Keppra, Banzel, Vimpat, Clobazam, Ezogabine, Eslicarbazepine, Perampanel, Levetiracetam, Lamotrigine, Clobazam, and Valproic acid. Other treatment options include dietary therapies, Valium, Vagus Nerve Stimulation, Topamax, Zonegran, Zarontin, Cannabidiol, and addressing other factors such as anxiety, sleep, and gastrointestinal issues.

Dr. Ron Thibert presented on seizure treatments at the 2015 ASF Family Conference. In his talk, he discussed the various treatment options available for individuals with Angelman syndrome who experience seizures. Here are the key points from his presentation:

Understanding Seizures in Angelman Syndrome

Seizures in Angelman syndrome are caused by abnormalities in the UBE3A gene and GABA receptor genes. Angelman syndrome is primarily characterized by neurological and psychological symptoms. Families with Angelman syndrome often seek treatment at the clinic at Massachusetts General and the Lurie Center.

Categorizing Seizure Medications

Seizure medications can be broadly categorized as broad spectrum or non-broad spectrum. Broad spectrum medications are preferred as they treat a wider range of seizure types.

Commonly Used Seizure Medications

• Depakote: Depakote is a commonly used seizure medication, but it can cause side effects such as weight gain and hormonal imbalances. Caution should be exercised when using Depakote in individuals with Angelman syndrome.
• Felbatol: Felbatol can be effective in treating seizures, but it requires careful monitoring due to potential side effects.
• Zonegran and Topamax: Zonegran and Topamax are similar medications that can cause acidosis and cognitive slowing.
• Lamictal: Lamictal is a well-tolerated medication that can help with mood stabilization and anxiety.
• Keppra: Keppra is a commonly used seizure medication with minimal side effects, but it can cause irritability in some individuals.
• Banzel: Banzel is a safe and effective medication for Lennox-Gastaut syndrome and has minimal side effects.
• Vimpat: Vimpat is a newer medication that is becoming more commonly used in children and has a good safety profile.
• Clobazam: Clobazam is an atypical benzo that can be effective for seizures and has fewer tolerance issues than typical benzos.
• Ezogabine: Ezogabine was a promising medication but was discontinued due to the risk of irreversible skin and retina discoloration.
• Eslicarbazepine (Aptiom): Eslicarbazepine is a new version of Tegretol and Trileptal, but it may worsen symptoms in Angelman syndrome. However, it is safe and well-tolerated for kids with classic autism.
• Perampanel (Fycompa): Perampanel is an AMPA receptor inhibitor and can help with seizures, but it may cause anger and rage in some kids.
• Levetiracetam (Keppra), Lamotrigine (Lamictal), Clobazam (Onfi), and Valproic acid (Depakote): These are commonly used and effective seizure medications.

Other Treatment Options

• Ketogenic Diet and Low Glycemic Index Diet: These dietary therapies can be effective in reducing seizures.
• Valium: Valium is a common treatment for non-convulsive status epilepticus.
• Vagus Nerve Stimulation (VNS): VNS can be an option when medications and diet do not work.
• Topamax, Zonegran, and Zarontin: These medications can also be used for seizures in Angelman syndrome.
• Cannabidiol (CBD): CBD shows promise as a potential treatment for seizures, but more research is needed.
• Treatment for Myoclonus: Myoclonus, characterized by muscle jerks, can be challenging to treat. Keppra and benzodiazepines can be helpful.
• Addressing Other Factors: Minimizing anxiety, improving sleep, and addressing gastrointestinal issues can improve seizure control. Additionally, dietary therapy can reduce the need for multiple medications.

In conclusion, Dr. Ron Thibert’s talk provided valuable insights into the various seizure treatments available for individuals with Angelman syndrome. By understanding the different medications and treatment options, families and healthcare professionals can work together to improve seizure control and overall quality of life for individuals with Angelman syndrome.