Epilepsy Genetics Program Clinician Resources

LIke ThisLIke ThisLIke ThisLIke ThisLIke This

Olson H,  Shen Y,  Avallone J, Sheidley BR, Pinsky R, Bergin A, Berry G, Duffy F, Eksioglu Y,  Harris D,  Hisama F, Ho E,  Irons M, Jacobsen C, James P, Kothare S, Kwhaja O, Lipton J,  Loddenkemper T,  Markowitz J,  Maski K,  Megeria, J; Neilan E,  Raffalli P,  Robbins M, Roberts A,  Roe E, Rollins C, Sahin M, Sarco D,  Schonwald A, Smith S, Soul J,  Stoler J, Takeoka M, Tan WH,  Torres A, Tsai P,  Urion D,  Weissman L, Wolff R, Wu BL, Miller D, Poduri A. (2014). “Copy number variation plays an important role in clinical epilepsy.” Annals of Neurology. 2014 Jun; 75(6):943-58.

Poduri A, Sheidley BR, Shostak S, Ottman R (2014). "Genetic testing in the epilepsies-developments and dilemmas." Nat Rev Neurol. 2014 May; 10(5):293-9.

Olson, H. E., M. Lechpammer, et al. (2013). "Clinical application and evaluation of the Bien diagnostic criteria for Rasmussen encephalitis." Epilepsia 54(10): 1753-1760.

Shain, C., S. Ramgopal, et al. (2013). "Polymicrogyria-associated epilepsy: a multicenter phenotypic study from the Epilepsy Phenome/Genome Project." Epilepsia 54(8): 1368-1375.

Poduri A, Heinzen EL, Chitsazzadeh V, Lasorsa FM, Elhosary PC, LaCoursiere CM, Martin E, Yuskaitis CJ, Hill RS, Atabay KD, Barry B, Partlow JN, Bashiri FA, Zeidan RM, Elmalik SA, Kabiraj MM, Kothare S, Stödberg T, McTague A, Kurian MA, Scheffer IE, Barkovich AJ, Palmieri F, Salih MA, Walsh CA. (2013). “SLC25A22 is a novel gene for migrating partial seizures in infancy.” Annals of Neurology. 2013 Dec; 74(6): 873-82.

Poduri, A., G. D. Evrony, et al. (2013). "Somatic mutation, genomic variation, and neurological disease." Science 341(6141): 1237758.

Olson HE, Poduri A. "CDKL5 mutations in early onset epilepsy: Case report and review of the literature." Journal of Pediatric Epilepsy. 2012. 1:151-159.

Poduri, A. (2012). "Expect the unexpected in epilepsy genetics: mutations in an epilepsy gene considered to be benign result in a severe phenotype." Annals of Neurology. 71(1): 1-2.

Poduri A, Chopra SS, Neilan EG, Christina Elhosary P, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stodberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV. (2012) "Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy." Epilepsia. 2012 Aug;53(8):e146-50.

Poduri A, Evrony GD, Cai X, Elhosary PC, Beroukhim R, Lehtinen MK, Hills LB, Heinzen EL, Hill A, Hill RS, Barry BJ, Bourgeois BF, Riviello JJ, Barkovich AJ, Black PM, Ligon KL, Walsh CA. "Somatic activation of AKT3 causes hemispheric developmental brain malformations." Neuron. 2012 Apr 12; 74(1):41-48.

Sheidley BR, Poduri A. (2012) "Genetics in clinical epilepsy: Issues in genetic testing and counseling." Journal of Pediatric Epilepsy. 2012 Jul 27; 1:135-142.

Poduri, A, Lowenstein, D. (2011). "Epilepsy genetics--past, present, and future." Curr Opin Genet Dev. 21(3): 325-332.


Request an Appointment

If this is a medical emergency, please dial 9-1-1. This form should not be used in an emergency.

Patient Information
Date of Birth:
Contact Information
Appointment Details
Send RequestIf you do not see the specialty you are looking for, please call us at: 617-355-6000.International visitors should call International Health Services at +1-617-355-5209.
Please complete all required fields

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

This department is currently not accepting appointment requests online. Please call us at: 617-355-6000. International +1-617-355-6000.

Thank you.

Your request has been successfully submitted

You will be contacted within 1 business day.

If you have questions or would like more information, please call:

617-355-6000 +1-617-355-6000
Find a Doctor
Search by Clinician's Last Name or Specialty:
Select by Location:
Search by First Letter of Clinician's Last Name: *ABCDEFGHIJKLMNOPQRSTUVWXYZ
Condition & Treatments
Search for a Condition or Treatment:
View allSearch

Contact Epilepsy Genetics Program

  • 1-617-355-8656

Related Conditions

The future of pediatrics will be forged by thinking differently, breaking paradigms and joining together in a shared vision of tackling the toughest challenges before us.”
- Sandra L. Fenwick, President and CEO