About

Erin Heinzen, Pharm.D., Ph.D., is an associate professor at the UNC Eshelman School of Pharmacy in the Division of Pharmacotherapy and Experimental Therapeutics with a joint appointment in the UNC Department of Genetics. Dr. Heinzen received her Pharm.D. (2001) and her Ph.D. (2004) in Pharmaceutical Sciences from the University of North Carolina at Chapel Hill. She then went on to do postdoctoral training in human genetics at Duke University. Previously she served as Deputy Director of the Institute for Genomic Medicine and was the Herbert Irving Assistant Professor of the Department of Pathology & Cell Biology at Columbia University. Dr. Heinzen is a licensed pharmacist in North Carolina and New York.

Dr. Heinzen’s research broadly focuses on neurodevelopment disease genetics. She has contributed to the discovery of 15 novel epilepsy genes, and the gene responsible for Alternating Hemiplegia of Childhood, a rare neurodevelopmental disorder. She part of multiple highly collaborative research groups including the Epi4K Consortium, Epi25 Collaborative, EPIGEN, the ILAE Consortium of Complex Epilepsies, Pediatric Status Epilepticus Research Group, and the Epilepsy Genetics Initiative. Dr. Heinzen’s research program is funded by the National Institutes of Neurological Disorders and Stroke and the Eunice Kennedy Shriver National Institute of Child Health and Human Development.

Selected Publications:

• 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. Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol. 2018 Jun;83(6):1133-1146.
• Heinzen EL, O’Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M; Epi4K Consortium; Epilepsy Phenome/Genome Project. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018 May 8;14(5):e1007281.
• Myers CT, Stong N, Mountier EI, Helbig KL, Freytag S, Sullivan JE, Ben Zeev B, Nissenkorn A, Tzadok M, Heimer G, Shinde DN, Rezazadeh A, Regan BM, Oliver KL, Ernst ME, Lippa NC, Mulhern MS, Ren Z, Poduri A, Andrade DM, Bird LM, Bahlo M, Berkovic SF, Lowenstein DH, Scheffer IE, Sadleir LG, Goldstein DB, Mefford HC, Heinzen EL. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures. Am J Hum Genet. 2017 Oct 5;101(4):516-524. PMID: 28942967. PMCID: PMC5630160.
• Griffin NG, Wang Y, Hulette CM, Halvorsen M, Cronin KD, Walley NM5, Haglund MM, Rodney A. Radtke RA, Skene JHP, Sinha SR, Heinzen EL. Differential gene expression in dentate granule cells in mesial temporal lobe epilepsy with and without hippocampal sclerosis. Epilepsia 2016.
• Heinzen EL, Neale BM, Traynelis SF, Allen AS, Goldstein DB. Annu Rev Neurosci. 2015 Jul 8;38:47-68. PMID: 26410222
• EuroEPINOMICS-RES Consortium; Epilepsy Phenome/Genome Project; Epi4K Consortium. De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies. Am J Hum Genet. 2014 Oct 2;95(4):360-70. PMID: 25262651; PMCID: PMC4185114.
• Heinzen EL*, Swoboda KJ*, Hitomi Y*, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l’Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium, Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012 Sep;44(9):1030-4. PMID: 22842232; PMCID: PMC3442240.