Annapurna Poduri

Annapurna Poduri, MD, MPH

Associate, Department of Neurology; Director, Epilepsy Genetics Program, Boston Children’s Hospital; Associate Professor of Neurology, Harvard Medical School.

Research Focus

Epilepsy genetics, human genetics and animal models.

Brief Research Description

The Poduri Lab/Epilepsy Genetics Program seeks to understand the genetic causes of epilepsy and their effects on the developing nervous system. Their translational research program engages in the following broad pursuits: (1) clinical research focused on phenotyping patients with epilepsy with and without known genetic causes; (2) genomic analysis of unsolved suspected genetic epilepsies, locally and in collaboration with international consortia; and (3) modeling epilepsy genes in zebrafish for functional analysis and eventually drug screening.

Key Publications (PMCIDs)

Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy.
Winawer MR, Griffin NG, Samanamud J, Baugh EH, Rathakrishnan D, Ramalingam S, Zagzag D, Schevon CA, Dugan P, Hegde M, Sheth SA, McKhann GM, Doyle WK, Grant GA, Porter BE, Mikati MA, Muh CR, Malone CD, Bergin AMR, Peters JM, McBrian DK, Pack AM, Akman CI, LaCoursiere CM, Keever KM, Madsen JR, Yang E, Lidov HGW, Shain C, Allen AS, Canoll PD, Crino PB*, Poduri AH*, Heinzen EL.
Ann Neurol 2018;83(6):1133-46. PMCID: PMC6105543

A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility.
Yuskaitis CJ, Jones BM, Wolfson RL, Super CE, Dhamne SC, Rotenberg A, Sabatini DM, Sahin M*, Poduri A*.
Neurobiol Dis 2018;111:91-101. PMCID: PMC5803417

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.
D'Gama AM, Woodworth MB, Hossain AA, Bizzotto S, Hatem NE, LaCoursiere CM, Najm I, Ying Z, Yang E, Barkovich AJ, Kwiatkowski DJ, Vinters HV, Madsen JR, Mathern GW, Blumcke I, Poduri A*, Walsh CA*.
Cell Rep 2017;21(13):3754-66. PMCID: PMC5752134

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.
Olson HE, Kelly M, LaCoursiere CM, Pinsky R, Tambunan D, Shain C, Ramgopal S, Takeoka M, Libenson MH, Julich K, Loddenkemper T, Marsh ED, Segal D, Koh S, Salman MS, Paciorkowski AR, Yang E, Bergin AM, Sheidley BR, Poduri A.
Ann Neurol 2017;81(3):419-29. PMCID: PMC5366084

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