Overview
Generalized epilepsy-paroxysmal dyskinesia syndrome (also sometimes called GEPD syndrome) is a rare neurological condition that causes two main types of episodes: epileptic seizures and sudden, involuntary movements called paroxysmal dyskinesias. Epileptic seizures happen when there is abnormal electrical activity across the brain, causing loss of awareness, convulsions, or other changes in behavior. Paroxysmal dyskinesias are sudden bursts of twisting, writhing, or jerking movements that a person cannot control, but which do not involve abnormal brain electrical activity in the same way as seizures. These movement episodes can be triggered by things like sudden movement, stress, caffeine, or fatigue. This syndrome is caused by changes (mutations) in specific genes that affect how brain cells communicate and control electrical signals. Most cases are linked to mutations in the PRRT2 gene, though other genes can be involved. The condition usually begins in childhood or adolescence and tends to run in families. Treatment focuses on controlling symptoms. Anti-seizure medications, especially carbamazepine and oxcarbazepine, are often very effective at reducing both seizure activity and the abnormal movement episodes. Many people with this syndrome respond well to treatment and can lead relatively normal lives, though ongoing medical management is usually needed.
Also known as:
Key symptoms:
Epileptic seizures (generalized, affecting the whole brain)Sudden involuntary twisting or jerking movements (paroxysmal dyskinesias)Movement episodes triggered by sudden motion or startleMovement episodes triggered by stress, caffeine, or tirednessBrief episodes of abnormal posturing of the limbs or trunkLoss of awareness or consciousness during seizuresEpisodes that may look like stiffening or shaking of the bodySymptoms that often begin in childhood or teenage yearsFamily history of similar episodes in parents or siblings
Clinical phenotype terms (11)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Generalized epilepsy-paroxysmal dyskinesia syndrome.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Generalized epilepsy-paroxysmal dyskinesia syndrome.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.Which gene is most likely causing my condition, and should I have genetic testing?,Is carbamazepine or oxcarbazepine the right first treatment for me, and what side effects should I watch for?,What should I do if I have a seizure that lasts more than 5 minutes?,Are there specific triggers I should avoid to reduce my episodes?,Will my symptoms improve as I get older, or is this a lifelong condition?,Should my family members be tested for the same gene mutation?,Are there any clinical trials or new treatments I should know about?
Common questions about Generalized epilepsy-paroxysmal dyskinesia syndrome
What is Generalized epilepsy-paroxysmal dyskinesia syndrome?
Generalized epilepsy-paroxysmal dyskinesia syndrome (also sometimes called GEPD syndrome) is a rare neurological condition that causes two main types of episodes: epileptic seizures and sudden, involuntary movements called paroxysmal dyskinesias. Epileptic seizures happen when there is abnormal electrical activity across the brain, causing loss of awareness, convulsions, or other changes in behavior. Paroxysmal dyskinesias are sudden bursts of twisting, writhing, or jerking movements that a person cannot control, but which do not involve abnormal brain electrical activity in the same way as se
How is Generalized epilepsy-paroxysmal dyskinesia syndrome inherited?
Generalized epilepsy-paroxysmal dyskinesia syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Generalized epilepsy-paroxysmal dyskinesia syndrome typically begin?
Typical onset of Generalized epilepsy-paroxysmal dyskinesia syndrome is childhood. Age of onset can vary across affected individuals.