Genetics of Severe Early Onset Epilepsies
| Status: | Recruiting |
|---|---|
| Conditions: | Infectious Disease, Neurology, Psychiatric, Epilepsy |
| Therapuetic Areas: | Immunology / Infectious Diseases, Neurology, Psychiatry / Psychology, Other |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 10/6/2018 |
| Start Date: | November 2010 |
| End Date: | December 2020 |
Genetics of Epilepsy and Related Disorders
Investigators at Boston Children's Hospital are conducting research in order to better
understand the genetic factors which may contribute to disorders related to epilepsy. These
findings may help explain the broad spectrum of clinical characteristics and outcomes seen in
people with epilepsy.
understand the genetic factors which may contribute to disorders related to epilepsy. These
findings may help explain the broad spectrum of clinical characteristics and outcomes seen in
people with epilepsy.
Many children with epilepsy experience seizures which respond well to treatment. A few types
of epilepsy, however, are characterized by seizures which begin very early in childhood and
are associated with severe intellectual and/or developmental disabilities. These conditions,
known as progressive epileptic encephalopathies, are particularly severe and are often
difficult to treat. These syndromes include infantile spasms, early infantile epileptic
encephalopathy with suppression bursts (Ohtahara syndrome), malignant migrating partial
epilepsy of infancy, early myoclonic epileptic encephalopathy, and severe myoclonic epilepsy
of infancy (Dravet syndrome).
The investigators' current research effort is focused on children with epileptic
encephalopathies, in particular Ohtahara syndrome. The investigators' goal is to identify
genetic alterations (known as "mutations") that cause Ohtahara syndrome. By doing so the
investigators hope to improve diagnosis and treatment for this condition. It is also possible
that understanding the genetic basis of Ohtahara syndrome may in some instances make it
possible to prevent it from occurring in the future.
of epilepsy, however, are characterized by seizures which begin very early in childhood and
are associated with severe intellectual and/or developmental disabilities. These conditions,
known as progressive epileptic encephalopathies, are particularly severe and are often
difficult to treat. These syndromes include infantile spasms, early infantile epileptic
encephalopathy with suppression bursts (Ohtahara syndrome), malignant migrating partial
epilepsy of infancy, early myoclonic epileptic encephalopathy, and severe myoclonic epilepsy
of infancy (Dravet syndrome).
The investigators' current research effort is focused on children with epileptic
encephalopathies, in particular Ohtahara syndrome. The investigators' goal is to identify
genetic alterations (known as "mutations") that cause Ohtahara syndrome. By doing so the
investigators hope to improve diagnosis and treatment for this condition. It is also possible
that understanding the genetic basis of Ohtahara syndrome may in some instances make it
possible to prevent it from occurring in the future.
Inclusion Criteria:
- Epilepsy
Exclusion Criteria:
We found this trial at
1
site
300 Longwood Ave
Boston, Massachusetts 02115
Boston, Massachusetts 02115
(617) 355-6000
Principal Investigator: Annapurna Poduri, MD, MPH
Phone: 617-355-5254
Boston Children's Hospital Boston Children's Hospital is a 395-bed comprehensive center for pediatric health care....
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