Somatic variants as a cause of drug‐resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis
Carton, Robert J., Doyle, Michael G., Kearney, Hugh, Steward, Charles A., Lench, Nicholas J., Rogers, Anthony, Heinzen, Erin L., McDonald, Seamus, Fay, Joanna, Lacey, Austin, Beausang, Alan, Cryan, Jane, Brett, Francesca, El‐Naggar, Hany, Widdess‐Walsh, Peter, Costello, Daniel, Kilbride, Ronan, Doherty, Colin P., Sweeney, Kieron J., O'Brien, Donncha F., Henshall, David C., Delanty, Norman, Cavalleri, Gianpiero L., Benson, Katherine A.
Published in Epilepsia (Copenhagen) (01.05.2024)
Published in Epilepsia (Copenhagen) (01.05.2024)
Get full text
Journal Article
Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy
Miller, Katherine E., Rivaldi, Adithe C., Shinagawa, Noriyuki, Sran, Sahib, Navarro, Jason B., Westfall, Jesse J., Miller, Anthony R., Roberts, Ryan D., Akkari, Yassmine, Supinger, Rachel, Hester, Mark E., Marhabaie, Mohammad, Gade, Meethila, Lu, Jinfeng, Rodziyevska, Olga, Bhattacharjee, Meenakshi B., Von Allmen, Gretchen K., Yang, Edward, Lidov, Hart G. W., Harini, Chellamani, Shah, Manish N., Leonard, Jeffrey, Pindrik, Jonathan, Shaikhouni, Ammar, Goldman, James E., Pierson, Christopher R., Thomas, Diana L., Boué, Daniel R., Ostendorf, Adam P., Mardis, Elaine R., Poduri, Annapurna, Koboldt, Daniel C., Heinzen, Erin L., Bedrosian, Tracy A.
Published in Nature genetics (01.11.2023)
Published in Nature genetics (01.11.2023)
Get full text
Journal Article
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions
Green, Timothy E, Motelow, Joshua E, Bennett, Mark F, Ye, Zimeng, Bennett, Caitlin A, Griffin, Nicole G, Damiano, John A, Leventer, Richard J, Freeman, Jeremy L, Harvey, A Simon, Lockhart, Paul J, Sadleir, Lynette G, Boys, Amber, Scheffer, Ingrid E, Major, Heather, Darbro, Benjamin W, Bahlo, Melanie, Goldstein, David B, Kerrigan, John F, Heinzen, Erin L, Berkovic, Samuel F, Hildebrand, Michael S
Published in Human molecular genetics (21.07.2022)
Published in Human molecular genetics (21.07.2022)
Get full text
Journal Article
A genome-wide investigation of SNPs and CNVs in schizophrenia
Need, Anna C, Ge, Dongliang, Weale, Michael E, Maia, Jessica, Feng, Sheng, Heinzen, Erin L, Shianna, Kevin V, Yoon, Woohyun, Kasperaviciūte, Dalia, Gennarelli, Massimo, Strittmatter, Warren J, Bonvicini, Cristian, Rossi, Giuseppe, Jayathilake, Karu, Cola, Philip A, McEvoy, Joseph P, Keefe, Richard S E, Fisher, Elizabeth M C, St Jean, Pamela L, Giegling, Ina, Hartmann, Annette M, Möller, Hans-Jürgen, Ruppert, Andreas, Fraser, Gillian, Crombie, Caroline, Middleton, Lefkos T, St Clair, David, Roses, Allen D, Muglia, Pierandrea, Francks, Clyde, Rujescu, Dan, Meltzer, Herbert Y, Goldstein, David B
Published in PLoS genetics (01.02.2009)
Published in PLoS genetics (01.02.2009)
Get full text
Journal Article
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus
Heron, Sarah E, Regan, Brigid M, Harris, Rebekah V, Gardner, Alison E, Coleman, Matthew J, Bennett, Mark F, Grinton, Bronwyn E, Helbig, Katherine L, Sperling, Michael R, Haut, Sheryl, Geller, Eric B, Widdess-Walsh, Peter, Pelekanos, James T, Bahlo, Melanie, Petrovski, Slavé, Heinzen, Erin L, Hildebrand, Michael S, Corbett, Mark A, Scheffer, Ingrid E, Gécz, Jozef, Berkovic, Samuel F
Published in Neurology (04.05.2021)
Published in Neurology (04.05.2021)
Get more information
Journal Article
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures
Myers, Candace T., Stong, Nicholas, Mountier, Emily I., Helbig, Katherine L., Freytag, Saskia, Sullivan, Joseph E., Ben Zeev, Bruria, Nissenkorn, Andreea, Tzadok, Michal, Heimer, Gali, Shinde, Deepali N., Rezazadeh, Arezoo, Regan, Brigid M., Oliver, Karen L., Ernst, Michelle E., Lippa, Natalie C., Mulhern, Maureen S., Ren, Zhong, Poduri, Annapurna, Andrade, Danielle M., Bird, Lynne M., Bahlo, Melanie, Berkovic, Samuel F., Lowenstein, Daniel H., Scheffer, Ingrid E., Sadleir, Lynette G., Goldstein, David B., Mefford, Heather C., Heinzen, Erin L.
Published in American journal of human genetics (05.10.2017)
Published in American journal of human genetics (05.10.2017)
Get full text
Journal Article
Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy
Perucca, Piero, Stanley, Kate, Harris, Natasha, McIntosh, Anne M., Asadi‐Pooya, Ali A., Mikati, Mohamad A., Andrade, Danielle M., Dugan, Patricia, Depondt, Chantal, Choi, Hyunmi, Heinzen, Erin L., Cavalleri, Gianpiero L., Buono, Russell J., Devinsky, Orrin, Sperling, Michael R., Berkovic, Samuel F., Delanty, Norman, Goldstein, David B., O'Brien, Terence J., Andrade, Danielle, Sen, Arjune, Bazil, Carl W., Boland, Michael, Cavalleri, Gianpiero, Choi, Hyunmi, Colombo, Sophie, Costello, Daniel, Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Doherty, Colin Patrick, Dugan, Patricia, Frankel, Wayne, Goldstein, David, Heinzen, Erin, Johnson, Michael, Kwan, Patrick, Marson, Tony, McCormack, Mark, Mikati, Mohamad, O'Brien, Terry, Ottman, Ruth, Pandolfo, Massimo, Perucca, Piero, Petrovski, Slave, Radtke, Rodney, Rees, Mark, Sadoway, Tara, Valley, Nicole, Walley, Nicole, Wood, Nicholas, Zuberi, Sameer
Published in Annals of neurology (01.04.2023)
Published in Annals of neurology (01.04.2023)
Get full text
Journal Article
Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
Manzini, M. Chiara, Tambunan, Dimira E., Hill, R. Sean, Yu, Tim W., Maynard, Thomas M., Heinzen, Erin L., Shianna, Kevin V., Stevens, Christine R., Partlow, Jennifer N., Barry, Brenda J., Rodriguez, Jacqueline, Gupta, Vandana A., Al-Qudah, Abdel-Karim, Eyaid, Wafaa M., Friedman, Jan M., Salih, Mustafa A., Clark, Robin, Moroni, Isabella, Mora, Marina, Beggs, Alan H., Gabriel, Stacey B., Walsh, Christopher A.
Published in American journal of human genetics (07.09.2012)
Published in American journal of human genetics (07.09.2012)
Get full text
Journal Article
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity
Ernst, Michelle E., Baugh, Evan H., Thomas, Amanda, Bier, Louise, Lippa, Natalie, Stong, Nicholas, Mulhern, Maureen S., Kushary, Sulagna, Akman, Cigdem I., Heinzen, Erin L., Yeh, Raymond, Bi, Weimin, Hanchard, Neil A., Burrage, Lindsay C., Leduc, Magalie S., Chong, Josephine S. C., Bend, Renee, Lyons, Michael J., Lee, Jennifer A., Suwannarat, Pim, Brilstra, Eva, Simon, Marleen, Koopmans, Marije, Binsbergen, Ellen, Groepper, Daniel, Fleischer, Julie, Nava, Caroline, Keren, Boris, Mignot, Cyril, Mathieu, Sophie, Mancini, Grazia M. S., Madan‐Khetarpal, Suneeta, Infante, Elena M., Bluvstein, Judith, Seeley, Andrea, Bachman, Kristine, Klee, Eric W., Schultz‐Rogers, Laura E., Hasadsri, Linda, Barnett, Sarah, Ellingson, Marissa S., Ferber, Matthew J., Narayanan, Vinodh, Ramsey, Keri, Rauch, Anita, Joset, Pascal, Steindl, Katharina, Sheehan, Theodore, Poduri, Annapurna, Vasquez, Alejandra, Ruivenkamp, Claudia, White, Susan M., Pais, Lynn, Monaghan, Kristin G., Goldstein, David B., Sands, Tristan T., Aggarwal, Vimla
Published in Epilepsia (Copenhagen) (01.07.2021)
Published in Epilepsia (Copenhagen) (01.07.2021)
Get full text
Journal Article
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
Panagiotakaki, Eleni, Tiziano, Francesco D, Mikati, Mohamad A, Vijfhuizen, Lisanne S, Nicole, Sophie, Lesca, Gaetan, Abiusi, Emanuela, Novelli, Agnese, Di Pietro, Lorena, Harder, Aster V E, Walley, Nicole M, De Grandis, Elisa, Poulat, Anne-Lise, Portes, Vincent Des, Lépine, Anne, Nassogne, Marie-Cecile, Arzimanoglou, Alexis, Vavassori, Rosaria, Koenderink, Jan, Thompson, Christopher H, George, Jr, Alfred L, Gurrieri, Fiorella, van den Maagdenberg, Arn M J M, Heinzen, Erin L
Published in European journal of human genetics : EJHG (01.02.2024)
Published in European journal of human genetics : EJHG (01.02.2024)
Get full text
Journal Article
The Genetics of Neuropsychiatric Diseases: Looking In and Beyond the Exome
Heinzen, Erin L, Neale, Benjamin M, Traynelis, Stephen F, Allen, Andrew S, Goldstein, David B
Published in Annual review of neuroscience (08.07.2015)
Published in Annual review of neuroscience (08.07.2015)
Get full text
Journal Article
De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years
McCormack, Mark, McGinty, Ronan N., Zhu, Xiaolin, Slattery, Lisa, Heinzen, Erin L., Costello, Daniel J., Delanty, Norman, Cavalleri, Gianpiero L.
Published in European journal of medical genetics (01.01.2020)
Published in European journal of medical genetics (01.01.2020)
Get full text
Journal Article
D-DEMØ, a distinct phenotype caused by ATP1A3 mutations
Prange, Lyndsey, Pratt, Milton, Herman, Kristin, Schiffmann, Raphael, Mueller, David M, McLean, Melissa, Mendez, Mary Moya, Walley, Nicole, Heinzen, Erin L, Goldstein, David, Shashi, Vandana, Hunanyan, Arsen, Pagadala, Vijay, Mikati, Mohamad A
Published in Neurology. Genetics (01.10.2020)
Published in Neurology. Genetics (01.10.2020)
Get full text
Journal Article
SLC25A22 is a novel gene for migrating partial seizures in infancy
Poduri, Annapurna, Heinzen, Erin L., Chitsazzadeh, Vida, Lasorsa, Francesco Massimo, Elhosary, P. Christina, LaCoursiere, Christopher M., Martin, Emilie, Yuskaitis, Christopher J., Hill, Robert Sean, Atabay, Kutay Deniz, Barry, Brenda, Partlow, Jennifer N., Bashiri, Fahad A., Zeidan, Radwan M., Elmalik, Salah A., Kabiraj, Mohammad M. U., Kothare, Sanjeev, Stödberg, Tommy, McTague, Amy, Kurian, Manju A., Scheffer, Ingrid E., Barkovich, A. James, Palmieri, Ferdinando, Salih, Mustafa A., Walsh, Christopher A.
Published in Annals of neurology (01.12.2013)
Published in Annals of neurology (01.12.2013)
Get full text
Journal Article
Gaps and opportunities in refractory status epilepticus research in children: A multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG)
Sánchez Fernández, Iván, Abend, Nicholas S, Agadi, Satish, An, Sookee, Arya, Ravindra, Carpenter, Jessica L, Chapman, Kevin E, Gaillard, William D, Glauser, Tracy A, Goldstein, David B, Goldstein, Joshua L, Goodkin, Howard P, Hahn, Cecil D, Heinzen, Erin L, Mikati, Mohamad A, Peariso, Katrina, Pestian, John P, Ream, Margie, Riviello, James J, Tasker, Robert C, Williams, Korwyn, Loddenkemper, Tobias
Published in Seizure (London, England) (01.02.2014)
Published in Seizure (London, England) (01.02.2014)
Get full text
Journal Article
Genome-Wide Scan of Copy Number Variation in Late-Onset Alzheimer's Disease
Heinzen, Erin L., Need, Anna C., Hayden, Kathleen M., Chiba-Falek, Ornit, Roses, Allen D., Strittmatter, Warren J., Burke, James R., Hulette, Christine M., Welsh-Bohmer, Kathleen A., Goldstein, David B.
Published in Journal of Alzheimer's disease (01.01.2010)
Published in Journal of Alzheimer's disease (01.01.2010)
Get full text
Journal Article
New insights into tardive dyskinesia genetics: Implementation of whole-exome sequencing approach
Alkelai, Anna, Greenbaum, Lior, Heinzen, Erin L., Baugh, Evan H., Teitelbaum, Alexander, Zhu, Xiaolin, Strous, Rael D., Tatarskyy, Pavel, Zai, Clement C., Tiwari, Arun K., Tampakeras, Maria, Freeman, Natalie, Müller, Daniel J., Voineskos, Aristotle N., Lieberman, Jeffrey A., Delaney, Shannon L., Meltzer, Herbert Y., Remington, Gary, Kennedy, James L., Pulver, Ann E., Peabody, Emma P., Levy, Deborah L., Lerer, Bernard
Published in Progress in neuro-psychopharmacology & biological psychiatry (30.08.2019)
Published in Progress in neuro-psychopharmacology & biological psychiatry (30.08.2019)
Get full text
Journal Article
Differential gene expression in dentate granule cells in mesial temporal lobe epilepsy with and without hippocampal sclerosis
Griffin, Nicole G., Wang, Yu, Hulette, Christine M., Halvorsen, Matt, Cronin, Kenneth D., Walley, Nicole M., Haglund, Michael M., Radtke, Rodney A., Skene, J. H. Pate, Sinha, Saurabh R., Heinzen, Erin L.
Published in Epilepsia (Copenhagen) (01.03.2016)
Published in Epilepsia (Copenhagen) (01.03.2016)
Get full text
Journal Article
SVA: software for annotating and visualizing sequenced human genomes
Ge, Dongliang, Ruzzo, Elizabeth K., Shianna, Kevin V., He, Min, Pelak, Kimberly, Heinzen, Erin L., Need, Anna C., Cirulli, Elizabeth T., Maia, Jessica M., Dickson, Samuel P., Zhu, Mingfu, Singh, Abanish, Allen, Andrew S., Goldstein, David B.
Published in Bioinformatics (15.07.2011)
Published in Bioinformatics (15.07.2011)
Get full text
Journal Article
Nova2 Interacts with a Cis-Acting Polymorphism to Influence the Proportions of Drug-Responsive Splice Variants of SCN1A
Heinzen, Erin L., Yoon, Woohyun, Tate, Sarah K., Sen, Arjune, Wood, Nicholas W., Sisodiya, Sanjay M., Goldstein, David B.
Published in American journal of human genetics (01.05.2007)
Published in American journal of human genetics (01.05.2007)
Get full text
Journal Article