This page is dedicated to the Unexplained Epilepsies research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.

The Unexplained Epilepsies research study, established at Boston Children’s in 2018 and led by Drs. Alissa D’Gama and Annapurna Poduri, has enrolled more than 1,000 patients and their families.

Disease information

Unexplained epilepsies are a group of conditions that make some individuals susceptible to seizures but do not have a known cause. These include:

 
  • Dravet syndrome
  • Infantile epileptic spasms syndrome
  • Developmental and epileptic encephalopathy
  • Epilepsy in infancy with migrating focal seizures
  • Genetic epilepsy with febrile seizures plus
  • Infantile epilepsy syndrome
  • Myoclonic epilepsy in infancy
  • Neonatal epilepsy syndrome
  • Early infantile developmental and epileptic encephalopathy
  • Self-limited (familial) infantile epilepsy
  • Self-limited (familial) neonatal epilepsy
  • Self-limited familial neonatal-infantile epilepsy
  • Self-limited focal epilepsy syndrome
  • Self-limited epilepsy with centrotemporal spikes
  • Self-limited epilepsy with autonomic seizures
  • Childhood occipital visual epilepsy
  • Photosensitive occipital lobe epilepsy
  • Genetic generalised epilepsy syndrome
  • Epilepsy with eyelid myoclonia
  • Epilepsy with myoclonic absence
  • Idiopathic generalised epilepsy syndrome
  • Childhood absence epilepsy
  • Epilepsy with myoclonic atonic seizures
  • Lennox-Gastaut syndrome
  • Developmental and/or epileptic encephalopathy with spike-wave activation in sleep
  • Febrile infection-related epilepsy syndrome
  • Hemiconvulsion-hemiplegia-epilepsy syndrome
  • Juvenile myoclonic epilepsy
  • Juvenile absence epilepsy
  • Epilepsy with generalised tonic-clonic seizures alone
  • Sleep-related hypermotor (hyperkinetic) epilepsy
  • Familial mesial temporal lobe epilepsy
  • Epilepsy with auditory features
  • Familial focal epilepsy with variable foci
  • Epilepsy with reading-induced seizures
  • Progressive myoclonus epilepsies
  • Rasmussen syndrome
  • Generalized epilepsy
  • Focal epilepsy
  • Combined generalised and focal epilepsy syndrome

 

Unexplained epilepsies affect about 0.5% of children. It is estimated that most individuals with unexplained epilepsies have an underlying genetic cause. For children with epilepsy, precise early diagnosis can guide clinical management to improve outcomes and quality of life. Learn more about epilepsies and seizures at Boston Children’s.

Key outcomes

Key outcomes include discoveries of clinically diagnostic variants for individual children with epilepsy, diagnostic yield for specific types of epilepsies, and clinical utility of genetic diagnosis in epilepsy.

Genes of interest

Over 800 genes are associated with epilepsy.

Participate in research

Physicians may refer their patients with epilepsy to Drs. D’Gama and Poduri. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. D’Gama’s studies on the D’Gama Lab webpage.

Patient care

Patients and their families with epilepsy can be seen by an expert multidisciplinary team in the Epilepsy Center at Boston Children’s. 

Patient stories

The diagnostic odyssey spanning over two decades for a patient in her early 20s finally came to an end when Dr. Poduri delivered a diagnosis to the family. Although doctors suspected a genetic neurodevelopmental disorder linked to epilepsy since childhood, genetic testing for this patient was delayed due to the lack of genetic testing for a single gene when she was young and insurance barriers as she got older. This study was able to close that diagnostic gap by finding a precise genetic answer to the patient’s health challenges and a specific gene responsible for her condition. Despite the long road to diagnosis, the family embraced an opportunity to participate in further research on the natural history study of this particular gene. This case illustrates the history of the field of genetics in pediatrics and epilepsies, and how this study is able to fill any existing gaps for the patients trying to end their diagnostic odyssey.

Investigator

Divisions

Notable publications by investigators

  1. Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy
  2. Genome Sequencing after Exome Sequencing in Pediatric Epilepsy

Disease support organizations

CURE Epilepsy

CURE Epilepsy is a nonprofit organization with a mission to find a cure for epilepsy, by promoting and funding patient-focused research.

Epilepsy Alliance America

Epilepsy Alliance America is a growing national organization representing like-minded local, regional, statewide, and even other national agencies dedicated to serving the everyday needs of people who live with seizures and epilepsy every day.

Epilepsy Foundation

Epilepsy Foundation aims is to improve the lives of people affected by epilepsy through education, advocacy, research, and connection. For more than five decades, the Epilepsy Foundation and our network of nearly 50 partners have helped to connect people to treatment, support, and resources, fund innovative research and the training of specialists, and educate the public about epilepsy and seizure first aid.

Josh Provides Epilepsy Assistance Foundation

JoshProvides Epilepsy Assistance Foundation supports those living with seizure disorders by offering community education & awareness, local support groups and financially helping them with medical services, seizure detection devices and transportation costs.

My Epilepsy Story

My Epilepsy Story (MES) is an international, nonprofit organization that serves to bridge the gap for women and girls diagnosed with epilepsy, as well as the children impacted by their mother’s epilepsy by Collaborating, Advocating, Researching, and Educating (C.A.R.E.) about women’s health and epilepsy.

The Defeating Epilepsy Foundation

The Defeating Epilepsy Foundation provides the advocacy and educational resources needed to the epilepsy community and our society and is dedicated to removing the stigma associated with epilepsy and helping to create opportunities for individuals battling epilepsy.

Trusted sites