Aug. 11, 2022
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Ohtahara syndrome is a rare form of epilepsy characterized by seizures and developmental delays that usually occur within the first three months of life (most often within the first 10 days). Some cases are caused by a brain abnormality, metabolic disorder, or gene mutation, while other cases have no known cause.
Girls and boys are equally affected. Infants most often have tonic seizures (stiffening of the muscles, upward eye gaze, dilated pupils, and altered breathing), but may also experience focal seizures (involving only one area or side of the brain), and rarely, myoclonic seizures (sudden jerks or twitches of the upper body, arms, and legs). Children with the disorder may have more than one type of seizure.
Ohtahara syndrome currently has no cure. Treatment may include corticosteroids, a ketogenic diet (high fat, low carbohydrate), and physical, speech, and occupational therapies. Epilepsy surgery, in cases where a focal brain lesion (damage or abnormal development of one area/side of the brain) is present, may be beneficial.
How can I or a loved one help improve care for people with Ohtahara syndrome?
Consider participating in a clinical trial so clinicians and scientists can learn more about Ohtahara syndrome and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.
All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.
For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials for people with Ohtahara syndrome or childhood epilepsy at ClinicalTrials.gov, which provides information about ongoing and completed federal and privately supported clinical trials.
Where can I find more information about Ohtahara syndrome?
Information may be available from the following organization:
The Epilepsy Foundation
Phone: 301-459-3700 or 800-332-1000; 866-748-8008 Spanish
Content source: https://www.ninds.nih.gov/health-information/disorders/ohtahara-syndrome Accessed June 23, 2023.
The information in this document is for general educational purposes only. It is not intended to substitute for personalized professional advice. Although the information was obtained from sources believed to be reliable, MedLink, its representatives, and the providers of the information do not guarantee its accuracy and disclaim responsibility for adverse consequences resulting from its use. For further information, consult a physician and the organization referred to herein.