Search Results - "Sheidley, Beth"

PCDH19‐related epilepsy is associated with a broad neurodevelopmental spectrum by Smith, Lacey, Singhal, Nilika, El Achkar, Christelle M., Truglio, Gessica, Rosen Sheidley, Beth, Sullivan, Joseph, Poduri, Annapurna

“…Summary Objective To characterize the features associated with PCDH19‐related epilepsy, also known as “female‐limited epilepsy.” Methods We analyzed data from…”
Get full text

Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study by Sánchez Fernández, Iván, Loddenkemper, Tobias, Gaínza-Lein, Marina, Sheidley, Beth Rosen, Poduri, Annapurna

“…OBJECTIVETo compare the cost-effectiveness of genetic testing strategies in patients with epilepsy of unknown etiology. METHODSThis meta-analysis and…”
Get full text

Genetic testing for the epilepsies: A systematic review by Sheidley, Beth R., Malinowski, Jennifer, Bergner, Amanda L., Bier, Louise, Gloss, David S., Mu, Weiyi, Mulhern, Maureen M., Partack, Emily J., Poduri, Annapurna

“…Objective Numerous genetic testing options for individuals with epilepsy have emerged over the past decade without clear guidelines regarding optimal testing…”
Get full text

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort by 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, Rosen Sheidley, Beth, Poduri, Annapurna

“…Objective We evaluated the yield of systematic analysis and/or reanalysis of whole exome sequencing (WES) data from a cohort of well‐phenotyped pediatric…”
Get full text

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice by Brunklaus, Andreas, Du, Juanjiangmeng, Steckler, Felix, Ghanty, Ismael I., Johannesen, Katrine M., Fenger, Christina Dühring, Schorge, Stephanie, Baez‐Nieto, David, Wang, Hao‐Ran, Allen, Andrew, Pan, Jen Q., Lerche, Holger, Heyne, Henrike, Symonds, Joseph D., Zuberi, Sameer M., Sanders, Stephan, Sheidley, Beth R., Craiu, Dana, Olson, Heather E., Weckhuysen, Sarah, DeJonge, Peter, Helbig, Ingo, Van Esch, Hilde, Busa, Tiffany, Milh, Matthieu, Isidor, Bertrand, Depienne, Christel, Poduri, Annapurna, Campbell, Arthur J., Dimidschstein, Jordane, Møller, Rikke S., Lal, Dennis

“…Objective Voltage‐gated sodium channels (SCNs) share similar amino acid sequence, structure, and function. Genetic variants in the four human brain‐expressed…”
Get full text

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study by D'Gama, Alissa M, Mulhern, Sarah, Sheidley, Beth R, Boodhoo, Fadil, Buts, Sarah, Chandler, Natalie J, Cobb, Joanna, Curtis, Meredith, Higginbotham, Edward J, Holland, Jonathon, Khan, Tayyaba, Koh, Julia, Liang, Nicole S Y, McRae, Lyndsey, Nesbitt, Sarah E, Oby, Brandon T, Paternoster, Ben, Patton, Alistair, Rose, Graham, Scotchman, Elizabeth, Valentine, Rozalia, Wiltrout, Kimberly N, Hayeems, Robin Z, Jain, Puneet, Lunke, Sebastian, Marshall, Christian R, Rockowitz, Shira, Sebire, Neil J, Stark, Zornitza, White, Susan M, Chitty, Lyn S, Cross, J Helen, Scheffer, Ingrid E, Chau, Vann, Costain, Gregory, Poduri, Annapurna, Howell, Katherine B, McTague, Amy

“…Most neonatal and infantile-onset epilepsies have presumed genetic aetiologies, and early genetic diagnoses have the potential to inform clinical management…”
Get full text

Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies by Haviland, Isabel, Daniels, Carolyn I., Greene, Caitlin A., Drew, Jacqueline, Love-Nichols, Jamie A., Swanson, Lindsay C., Smith, Lacey, Nie, Duyu A., Benke, Timothy, Sheidley, Beth R., Zhang, Bo, Poduri, Annapurna, Olson, Heather E.

“…Evidence of the impact of genetic diagnosis on medical management in individuals with previously unexplained epilepsy is lacking in the literature. Our goal…”
Get full text

Genetic testing and counseling for the unexplained epilepsies: An evidence‐based practice guideline of the National Society of Genetic Counselors by Smith, Lacey, Malinowski, Jennifer, Ceulemans, Sophia, Peck, Katlin, Walton, Nephi, Sheidley, Beth Rosen, Lippa, Natalie

“…Epilepsy, defined by the occurrence of two or more unprovoked seizures or one unprovoked seizure with a propensity for others, affects 0.64% of the population…”
Get full text

P305: Evaluation of the feasibility, diagnostic yield, and utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): An international pilot study by Yan Liang, Nicole Si, Costain, Gregory, D'Gama, Alissa, McTague, Amy, Howell, Katherine, Chau, Vann, Mulhern, Sarah, Poduri, Annapurna, Scheffer, Ingrid, Sheidley, Beth, Curtis, Meredith, Higginbotham, Edward, Khan, Tayyaba, McRae, Lyndsey, Wiltrout, Kimberly, Hayeems, Robin, Jain, Puneet, Lunke, Sebastian, Marshall, Christian, Chitty, Lyn, Rockowitz, Shira, Stark, Zornitza, White, Susan

Get full text

Copy number variation plays an important role in clinical epilepsy by Olson, Heather, Shen, Yiping, Avallone, Jennifer, Sheidley, Beth R., Pinsky, Rebecca, Bergin, Ann M., Berry, Gerard T., Duffy, Frank H., Eksioglu, Yaman, Harris, David J., Hisama, Fuki M., Ho, Eugenia, Irons, Mira, Jacobsen, Christina M., James, Philip, Kothare, Sanjeev, Khwaja, Omar, Lipton, Jonathan, Loddenkemper, Tobias, Markowitz, Jennifer, Maski, Kiran, Megerian, J. Thomas, Neilan, Edward, Raffalli, Peter C., Robbins, Michael, Roberts, Amy, Roe, Eugene, Rollins, Caitlin, Sahin, Mustafa, Sarco, Dean, Schonwald, Alison, Smith, Sharon E., Soul, Janet, Stoler, Joan M., Takeoka, Masanori, Tan, Wen-Han, Torres, Alcy R., Tsai, Peter, Urion, David K., Weissman, Laura, Wolff, Robert, Wu, Bai-Lin, Miller, David T., Poduri, Annapurna

“…Objective To evaluate the role of copy number abnormalities detectable using chromosomal microarray (CMA) testing in patients with epilepsy at a tertiary care…”
Get full text

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

“…Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The…”
Get full text

Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy by Koh, Hyun Yong, Smith, Lacey, Wiltrout, Kimberly N, Podury, Archana, Chourasia, Nitish, D'Gama, Alissa M, Park, Meredith, Knight, Devon, Sexton, Emma L, Koh, Julia J, Oby, Brandon, Pinsky, Rebecca, Shao, Diane D, French, Courtney E, Shao, Wanqing, Rockowitz, Shira, Sliz, Piotr, Zhang, Bo, Mahida, Sonal, Moufawad El Achkar, Christelle, Yuskaitis, Christopher J, Olson, Heather E, Sheidley, Beth Rosen, Poduri, Annapurna H

“…Genomic advances inform our understanding of epilepsy and can be translated to patients as precision diagnoses that influence clinical treatment, prognosis,…”
Get full text

Genetics of Epilepsy in the Era of Precision Medicine: Implications for Testing, Treatment, and Genetic Counseling by Sheidley, Beth Rosen, Smith, Lacey A., Helbig, Katherine L.

“…Purpose of Review Epilepsy is among the most common neurological diseases, affecting 65 million people worldwide. Recent revisions to the classification of…”
Get full text

Psychiatric Disorders in Clinical Genetics II: Individualizing Recurrence Risks by Austin, Jehannine C., Palmer, Christina G. S., Rosen-Sheidley, Beth, Veach, Patricia McCarthy, Gettig, Elizabeth, Peay, Holly L.

“…This is the second article of a two-part professional development series on genetic counseling for personal and family histories of psychiatric disorders. It…”
Get full text

Compound heterozygosity with PRRT2 : Pushing the phenotypic envelope in genetic epilepsies by El Achkar, Christelle Moufawad, Rosen Sheidley, Beth, O'Rourke, Declan, Takeoka, Masanori, Poduri, Annapurna

“…Abstract PRRT2 pathogenic variants have been described in benign familial infantile epilepsy, episodic ataxia, paroxysmal kinesigenic dyskinesia, and…”
Get full text

Genetic testing in the epilepsies—developments and dilemmas by Poduri, Annapurna, Sheidley, Beth Rosen, Shostak, Sara, Ottman, Ruth

“…Genetic testing has the potential to revolutionize care for individuals with epilepsy, but its advent is bringing to light important new issues, particularly…”
Get full text

Psychiatric Disorders in Clinical Genetics I: Addressing Family Histories of Psychiatric Illness by Peay, Holly L., Veach, Patricia McCarthy, Palmer, Christina G. S., Rosen-Sheidley, Beth, Gettig, Elizabeth, Austin, Jehannine C.

“…This is the first article of a two-part professional development series addressing genetic counseling for personal and family histories of psychiatric…”
Get full text

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

“…Objective We sought to identify genetic causes of early onset epileptic encephalopathies with burst suppression (Ohtahara syndrome and early myoclonic…”
Get full text

Assessing the landscape of STXBP1-related disorders in 534 individuals by Xian, Julie, Parthasarathy, Shridhar, Ruggiero, Sarah M, Balagura, Ganna, Fitch, Eryn, Helbig, Katherine, Gan, Jing, Ganesan, Shiva, Kaufman, Michael C, Ellis, Colin A, Lewis-Smith, David, Galer, Peter, Cunningham, Kristin, O'Brien, Margaret, Cosico, Mahgenn, Baker, Kate, Darling, Alejandra, Veiga de Goes, Fernanda, El Achkar, Christelle M, Doering, Jan Henje, Furia, Francesca, García-Cazorla, Ángeles, Gardella, Elena, Geertjens, Lisa, Klein, Courtney, Kolesnik-Taylor, Anna, Lammertse, Hanna, Lee, Jeehun, Mackie, Alexandra, Misra-Isrie, Mala, Olson, Heather, Sexton, Emma, Sheidley, Beth, Smith, Lacey, Sotero, Luiza, Stamberger, Hannah, Syrbe, Steffen, Thalwitzer, Kim Marie, van Berkel, Annemiek, van Haelst, Mieke, Yuskaitis, Christopher, Weckhuysen, Sarah, Prosser, Ben, Son Rigby, Charlene, Demarest, Scott, Pierce, Samuel, Zhang, Yuehua, Møller, Rikke S, Bruining, Hilgo, Poduri, Annapurna, Zara, Federico, Verhage, Matthijs, Striano, Pasquale, Helbig, Ingo

“…Disease-causing variants in STXBP1 are among the most common genetic causes of neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related…”
Get full text

Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients by Weckhuysen, Sarah, Ivanovic, Vanja, Hendrickx, Rik, Van Coster, Rudy, Hjalgrim, Helle, Møller, Rikke S, Grønborg, Sabine, Schoonjans, An-Sofie, Ceulemans, Berten, Heavin, Sinead B, Eltze, Christin, Horvath, Rita, Casara, Gianluca, Pisano, Tiziana, Giordano, Lucio, Rostasy, Kevin, Haberlandt, Edda, Albrecht, Beate, Bevot, Andrea, Benkel, Ira, Syrbe, Steffan, Sheidley, Beth, Guerrini, Renzo, Poduri, Annapurna, Lemke, Johannes R, Mandelstam, Simone, Scheffer, Ingrid, Angriman, Marco, Striano, Pasquale, Marini, Carla, Suls, Arvid, De Jonghe, Peter

“…OBJECTIVES:To determine the frequency of KCNQ2 mutations in patients with neonatal epileptic encephalopathy (NEE), and to expand the phenotypic spectrum of…”
Get full text