Genetic Forms of Epilepsies and other Paroxysmal Disorders

od Olson, Heather E., Poduri, Annapurna, Pearl, Phillip L.
Izdano u Semin Neurol (2014)

Mutations in Epilepsy and Intellectual Disability Genes in Patients with Features of Rett Syndrome

od Olson, Heather E., Tambunan, Dimira, LaCoursiere, Christopher, Goldenberg, Marti, Pinsky, Rebecca, Martin, Emilie, Ho, Eugenia, Khwaja, Omar, Kaufmann, Walter E., Poduri, Annapurna
Izdano u Am J Med Genet A (2015)

A Model Program for Translational Medicine in Epilepsy Genetics

od Smith, Lacey A., Ullmann, Jeremy F. P., Olson, Heather E., El Achkar, Christelle M., Truglio, Gessica, Kelly, McKenna, Rosen-Sheidley, Beth, Poduri, Annapurna
Izdano u J Child Neurol (2017)

Neural Stem Cell– and Schwann Cell–Loaded Biodegradable Polymer Scaffolds Support Axonal Regeneration in the Transected Spinal Cord

od Olson, Heather E., Rooney, Gemma E., Gross, Louann, Nesbitt, Jarred J., Galvin, Katherine E., Knight, Andrew, Chen, BingKun, Yaszemski, Michael J., Windebank, Anthony J.
Izdano 2009

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder: clinical review

od Olson, Heather E., Demarest, Scott T., Pestana-Knight, Elia M., Swanson, Lindsay C., Iqbal, Sumaiya, Lal, Dennis, Leonard, Helen, Cross, J. Helen, Devinsky, Orrin, Benke, Tim A.
Izdano u Pediatr Neurol (2019)

Characterization of a Novel Variant in Siblings with Asparagine Synthetase Deficiency

od Sacharow, Stephanie J., Dudenhausen, Elizabeth E., Lomelino, Carrie L., Rodan, Lance, El Achkar, Christelle Moufawad, Olson, Heather E., Genetti, Casie A, Agrawal, Pankaj B., McKenna, Robert, Kilberg, Michael S.
Izdano u Mol Genet Metab (2017)

Genetic diagnoses in epilepsy: the impact of dynamic exome analysis in a pediatric cohort

od Rochtus, Anne, Olson, Heather E., Smith, Lacey, Keith, Louisa G., El Achkar, Christelle, Taylor, Alan, Mahida, Sonal, Park, Meredith, Kelly, McKenna, Shain, Catherine, Rockowitz, Shira, Sheidley, Beth Rosen, Poduri, Annapurna
Izdano u Epilepsia (2020)

BRAT1 Mutations Present with a Spectrum of Clinical Severity

od Srivastava, Siddharth, Olson, Heather E., Cohen, Julie S., Gubbels, Cynthia S., Lincoln, Sharyn, Davis, Brigette Tippin, Shahmirzadi, Layla, Gupta, Siddharth, Picker, Jonathan, Yu, Timothy W., Miller, David T., Soul, Janet S., Poretti, Andrea, Naidu, SakkuBai
Izdano u Am J Med Genet A (2016)

SCN2A-Related Disorders

od Abbott, Megan, Bender, Kevin J., Brunklaus, Andreas, Demarest, Scott, Egan, Shawn, Haviland, Isabel, Kearney, Jennifer A., Schust Myers, Leah, Olson, Heather E., Sanders, Stephan J., SanInocencio, Christina, Symonds, Joseph, Thompson, Christopher H.
Izdano u Elements in Genetics in Epilepsy (2024)

CDKL5 Deficiency Disorder: Relationship between genotype, epilepsy, cortical visual impairment and development.

od Demarest, Scott T., Olson, Heather E., Moss, Angela, Pestana-Knight, Elia, Zhang, Xiaoming, Parikh, Sumit, Swanson, Lindsay C., Riley, Katherine D., Bazin, Grace A., Angione, Katie, Niestroj, Lisa-Marie, Lal, Dennis, Juarez-Colunga, Elizabeth, Benke, Tim A.
Izdano u Epilepsia (2019)

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

od Howell, Katherine B., McMahon, Jacinta M., Carvill, Gemma L., Tambunan, Dimira, Mackay, Mark T., Rodriguez-Casero, Victoria, Webster, Richard, Clark, Damian, Freeman, Jeremy L., Calvert, Sophie, Olson, Heather E., Mandelstam, Simone, Poduri, Annapurna, Mefford, Heather C., Harvey, A. Simon, Scheffer, Ingrid E.
Izdano u Neurology (2015)

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression

od Olson, Heather E., Kelly, McKenna, LaCoursiere, Christopher M., Pinsky, Rebecca, Tambunan, Dimira, Shain, Catherine, Ramgopal, Sriram, Takeoka, Masanori, Libenson, Mark H., Julich, Kristina, Loddenkemper, Tobias, Marsh, Eric D., Segal, Devorah, Koh, Susan, Salman, Michael S., Paciorkowski, Alex R., Yang, Edward, Bergin, Ann M., Sheidley, Beth Rosen, Poduri, Annapurna
Izdano u Ann Neurol (2017)

Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation

od Gardner, Jennifer F., Cushion, Thomas D., Niotakis, Georgios, Olson, Heather E., Grant, P. Ellen, Scott, Richard H., Stoodley, Neil, Cohen, Julie S., Naidu, Sakkubai, Attie-Bitach, Tania, Bonnières, Maryse, Boutaud, Lucile, Encha-Razavi, Férechté, Palmer-Smith, Sheila M., Mugalaasi, Hood, Mullins, Jonathan G. L., Pilz, Daniela T., Fry, Andrew E.
Izdano u Brain Sci (2018)

Severity Assessment in CDKL5 Deficiency Disorder

od Demarest, Scott, Pestana-Knight, Elia M., Olson, Heather E., Downs, Jenny, Marsh, Eric D., Kaufmann, Walter E., Partridge, Carol-Anne, Leonard, Helen, Gwadry-Sridhar, Femida, Frame, Katheryn Elibri, Cross, J. Helen, Chin, Richard F.M., Parikh, Sumit, Panzer, Axel, Weisenberg, Judith, Utley, Karen, Jaksha, Amanda, Amin, Sam, Khwaja, Omar, Devinsky, Orrin, Neul, Jeffery L., Percy, Alan K., Benke, Tim A.
Izdano u Pediatr Neurol (2019)

A Randomized Controlled Trial of Levodopa in Patients with Angelman Syndrome

od Tan, Wen-Hann, Bird, Lynne M., Sadhwani, Anjali, Barbieri-Welge, Rene L., Skinner, Steven A., Horowitz, Lucia T., Bacino, Carlos A., Noll, Lisa M., Fu, Cary, Hundley, Rachel J., Wink, Logan K., Erickson, Craig A., Barnes, Gregory N., Slavotinek, Anne, Jeremy, Rita, Rotenberg, Alexander, Kothare, Sanjeev V., Olson, Heather E., Poduri, Annapurna, Nespeca, Mark P., Chu, Hillary C., Willen, Jennifer M., Haas, Kevin F., Weeber, Edwin J., Rufo, Paul A.
Izdano u Am J Med Genet A (2017)

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

od Olson, Heather E., Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A., Bijlsma, Emilia K., Krock, Bryan L., Backer, E., Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R.F., Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J., Burglen, Lydie, Lesca, Gaetan, Cho, Megan T., Smith, Lacey A., Sheidley, Beth R., Moufawad El Achkar, Christelle, Pearl, Phillip L., Poduri, Annapurna, Skraban, Cara M., Tarpinian, Jennifer, Nesbitt, Addie I., Fransen van de Putte, Dietje E., Ruivenkamp, Claudia A.L., Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A., Waxler, Jessica L., Wierenga, Klaas J., Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M., Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Tran Mau-Them, Frédéric, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H., Schuurs-Hoeijmakers, Janneke, Brunner, Han G., Keren, Boris, Thevenon, Julien, Faivre, Laurence, Thomas, Gary, Thauvin-Robinet, Christel
Izdano u Am J Hum Genet (2018)

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

od Olson, Heather E., Jean-Marçais, Nolwenn, Yang, Edward, Heron, Delphine, Tatton-Brown, Katrina, van der Zwaag, Paul A., Bijlsma, Emilia K., Krock, Bryan L., Backer, E., Kamsteeg, Erik-Jan, Sinnema, Margje, Reijnders, Margot R.F., Bearden, David, Begtrup, Amber, Telegrafi, Aida, Lunsing, Roelineke J., Burglen, Lydie, Lesca, Gaetan, Cho, Megan T., Smith, Lacey A., Sheidley, Beth R., El Achkar, Christelle Moufawad, Pearl, Phillip L., Poduri, Annapurna, Skraban, Cara M., Tarpinian, Jennifer, Nesbitt, Addie I., Fransen van de Putte, Dietje E., Ruivenkamp, Claudia A.L., Rump, Patrick, Chatron, Nicolas, Sabatier, Isabelle, De Bellescize, Julitta, Guibaud, Laurent, Sweetser, David A., Waxler, Jessica L., Wierenga, Klaas J., Donadieu, Jean, Narayanan, Vinodh, Ramsey, Keri M., Nava, Caroline, Rivière, Jean-Baptiste, Vitobello, Antonio, Mau-Them, Frédéric Tran, Philippe, Christophe, Bruel, Ange-Line, Duffourd, Yannis, Thomas, Laurel, Lelieveld, Stefan H., Schuurs-Hoeijmakers, Janneke, Brunner, Han G., Keren, Boris, Thevenon, Julien, Faivre, Laurence, Thomas, Gary, Thauvin-Robinet, Christel
Izdano u Am J Hum Genet (2018)