This page is dedicated to the Infantile Epilepsy 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 Infantile Epilepsy research study, established at Boston Children’s in 2021, is led by Drs. Alissa D’Gama and Annapurna Poduri and has enrolled more than 140 patients and their families. The study aims to identify genetic causes of neonatal and infantile epilepsy and provide personalized medicine.

Disease information

Neonatal and infantile epilepsies represent a group of individually rare disorders with seizure onset in the first year of life. These include:

 
  • Dravet syndrome
  • Infantile epileptic spasms syndrome
  • Developmental and epileptic encephalopathy
  • Epilepsy in infancy with migrating focal seizures
  • Generalized epilepsy
  • Focal epilepsy
  • 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

It is estimated that over 50% of individuals with neonatal or infantile epilepsies have an underlying genetic cause. For infants 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 rapidly available diagnostic results for nearly half of patients. In those infants with identified genetic causes, many have changes in treatment plans. We are evaluating the developmental outcomes of this cohort over time in collaboration with the International Precision Child Health Partnership (IPCHiP).

Genes of interest

More than 800 genes are associated with epilepsy, including:

ARX, CDKL5, CSNK2B, DBT, DDX3X, DEPDC5, DNMT3A, DYNC1H1, FGFR3, GLDC, HECTD1, KANSL1, KCNQ2, KMT2D, L1CAM, MOCS2, MOGS, NEXMIF, NPRL3, PACS1, PAFAH1B1, POU3F3, PPP3CA, PRRT2, PRUNE1, PTEN, RERE, SCN1A, SCN2A, SCN8A, SETD5, SMC1A, ST3GAL5, TBCK, TCF4, TNPO2, UGDH, WWOX, ZC4H2, ZMYND11

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

In 2021, just one day after birth, Wilson experienced his first seizure. Despite various interventions and medications, his seizures persisted, until genetic testing provided precise answers that guided his treatment and stopped the seizures. Read Wilson's journey, along with the impact of genetic testing on infants with epilepsy in “How genetic testing helped Wilson help other infants with epilepsy."

Investigators

Divisions

Notable publications by investigators

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

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.

Danny Did Foundation

Danny Did Foundation’s mission is to advance public awareness of epilepsy and the risk of Sudden Unexpected Death in Epilepsy (SUDEP), to protect people with epilepsy, and to prevent deaths caused by seizures.

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 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

Josh Provides 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