Genetics of Severe Early Onset Epilepsies

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Brief Title

Genetics of Severe Early Onset Epilepsies

Official Title

Genetics of Epilepsy and Related Disorders

Brief Summary

      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.

Detailed Description

      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.

Study Type


Primary Outcome

Identify new or existing causative mutations through whole exome sequencing of epilepsy patients



Study Arms / Comparison Groups

 Epilepsy, genetics


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Estimated Enrollment


Start Date

November 2010

Completion Date

December 2030

Primary Completion Date

December 2030

Eligibility Criteria

        Inclusion Criteria:

          -  Epilepsy

        Exclusion Criteria:





N/A - N/A

Accepts Healthy Volunteers



Annapurna Poduri, MD, MPH, , 

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Responsible Party

Principal Investigator

Study Sponsor

Boston Children's Hospital

Study Sponsor

Annapurna Poduri, MD, MPH, Principal Investigator, Boston Children's Hospital

Verification Date

August 2022