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E. Martina Bebin

university of alabama at birmingham

40H-index
118Paper Count
9.2KCitation Count
Published Papers 28
Publication Date
Neurodevelopmental Outcomes from the PREVeNT Trial
err2025-09-16
err0
PREAI
errSarah E. O’Kelley; Jamie K. Capal; Tarrant O. McPherson; Kristina E. Patrick; Deborah A. Pearson; Peter E. Davis; Kristn Currans; Anna W. Byars; Brenda E. Porter; Mustafa Sahin; Katherine S. Taub; Rajsekar Rajaraman; Stephanie Randle; William M. McClintock; Mary Kay Koenig; Michael D. Frost; Klaus Werner; Danielle A. Nolan; Michael Wong; Jessica L. Krefting; Gary Cutter; Darcy A. Krueger; E.Martina Bebin
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Commentary Regarding the Results of the PREVeNT and EPISTOP Trials
err2023-11-28
err5
errOAAI
errJozwiak, Sergiusz; Kotulska, Katarzyna; Bebin, E. Martina; Krueger, Darcy A.
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Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial
err2023-09-25
err29
errOAAI
errBebin, Elizabeth Martina; Peters, Jurriaan M.; Porter, Brenda E.; McPherson, Tarrant O.; O'Kelley, Sarah; Sahin, Mustafa; Taub, Katherine S.; Rajaraman, Rajsekar; Randle, Stephanie C.; McClintock, William M.; Koenig, Mary Kay; Frost, Mike D.; Northrup, Hope A.; Werner, Klaus; Nolan, Danielle A.; Wong, Michael; Krefting, Jessica L.; Biasini, Fred; Peri, Kalyani; Cutter, Gary; Krueger, Darcy A.
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Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing
err2023-08-01
err4
errOAAI
errFelker, Stephanie A.; Lawlor, James M. J.; Hiatt, Susan M.; Thompson, Michelle L.; Latner, Donald R.; Finnila, Candice R.; Bowling, Kevin M.; Bonnstetter, Zachary T.; Bonini, Katherine E.; Kelly, Nicole R.; V. Kelley, Whitley; Hurst, Anna C. E.; Rashid, Salman; Kelly, Melissa A.; Nakouzi, Ghunwa; Hendon, Laura G.; Bebin, E. Martina; Kenny, Eimear E.; Cooper, Gregory M.
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Efficacy of cannabidiol in convulsive and nonconvulsive seizure types associated with treatment-resistant epilepsies in the Expanded Access Program
err2023-06-15
err10
errOAAI
errFlamini, Robert J.; Comi, Anne M.; Bebin, E. Martina; Chez, Michael G.; Clark, Gary; Devinsky, Orrin; Hussain, Shaun A.; Lyons, Paul D.; Patel, Anup D.; Rosengard, Jillian L.; Sahebkar, Farhad; Segal, Eric; Seltzer, Laurie; Szaflarski, Jerzy P.; Weinstock, Arie
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Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome
err2022-06-01
err14
errOAAI
errvan der Spek, Jet; den Hoed, Joery; Blok, Lot Snijders; Dingemans, Alexander J. M.; Schijven, Dick; Nellaker, Christoffer; Venselaar, Hanka; Astuti, Galuh D. N.; Barakat, Tahsin Stefan; Bebin, E. Martina; Beck-Wodl, Stefanie; Beunders, Gea; Brown, Natasha J.; Brunet, Theresa; Brunner, Han G.; Campeau, Philippe M.; Cuturilo, Goran; Gilissen, Christian; Haack, Tobias B.; Huning, Irina; Husain, Ralf A.; Kamien, Benjamin; Lim, Sze Chern; Lovrecic, Luca; Magg, Janine; Maver, Ales; Miranda, Valancy; Monteil, Danielle C.; Ockeloen, Charlotte W.; Pais, Lynn S.; Plaiasu, Vasilica; Raiti, Laura; Richmond, Christopher; Riess, Angelika; Schwaibold, Eva M. C.; Simon, Marleen E. H.; Spranger, Stephanie; Tan, Tiong Yang; Thompson, Michelle L.; de Vries, Bert B. A.; Wilkins, Ella J.; Willemsen, Marjolein H.; Francks, Clyde; Vissers, Lisenka E. L. M.; Fisher, Simon E.; Kleefstra, Tjitske
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Long-term cannabidiol treatment for seizures in patients with tuberous sclerosis complex: An open-label extension trial
err2021-12-27
err50
errOAAI
errThiele, Elizabeth A.; Bebin, E. Martina; Filloux, Francis; Kwan, Patrick; Loftus, Rachael; Sahebkar, Farhad; Sparagana, Steven; Wheless, James
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Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations
err2021-10-01
err354
errOAAI
errNorthrup, Hope; Aronow, Mary E.; Bebin, E. Martina; Bissler, John; Darling, Thomas N.; de Vries, Petrus J.; Frost, Michael D.; Fuchs, Zoe; Gosnell, Elizabeth S.; Gupta, Nishant; Jansen, Anna C.; Jozwiak, Sergiusz; Kingswood, J. Chris; Knilans, Timothy K.; McCormack, Francis X.; Pounders, Ashley; Roberds, Steven L.; Rodriguez-Buritica, David F.; Roth, Jonathan; Sampson, Julian R.; Sparagana, Steven; Thiele, Elizabeth Anne; Weiner, Howard L.; Wheless, James W.; Towbin, Alexander J.; Krueger, Darcy A.
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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
err2021-05-01
err20
errOAAI
errVoisin, Norine; Schnur, Rhonda E.; Douzgou, Sofia; Hiatt, Susan M.; Rustad, Cecilie F.; Brown, Natasha J.; Earl, Dawn L.; Keren, Boris; Levchenko, Olga; Geuer, Sinje; Verheyen, Sarah; Johnson, Diana; Zarate, Yuri A.; Hancarova, Miroslava; Amor, David J.; Bebin, E. Martina; Blatterer, Jasmin; Brusco, Alfredo; Cappuccio, Gerarda; Charrow, Joel; Chatron, Nicolas; Cooper, Gregory M.; Courtin, Thomas; Dadali, Elena; Delafontaine, Julien; Del Giudice, Ennio; Doco, Martine; Douglas, Ganka; Eisenkolbl, Astrid; Funari, Tara; Giannuzzi, Giuliana; Gruber-Sedlmayr, Ursula; Guex, Nicolas; Heron, Delphine; Holla, Oystein L.; Hurst, Anna C. E.; Juusola, Jane; Kronn, David; Lavrov, Alexander; Lee, Crystle; Lorrain, Severine; Merckoll, Else; Mikhaleva, Anna; Norman, Jennifer; Pradervand, Sylvain; Prchalova, Darina; Rhodes, Lindsay; Sanders, Victoria R.; Sedlacek, Zdenek; Seebacher, Heidelis A.; Sellars, Elizabeth A.; Sirchia, Fabio; Takenouchi, Toshiki; Tanaka, Akemi J.; Taska-Tench, Heidi; Tonne, Elin; Tveten, Kristian; Vitiello, Giuseppina; Vlckova, Marketa; Uehara, Tomoko; Nava, Caroline; Yalcin, Binnaz; Kosaki, Kenjiro; Donnai, Dian; Mundlos, Stefan; Brunetti-Pierri, Nicola; Chung, Wendy K.; Reymond, Alexandre
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A state-based approach to genomics for rare disease and population screening
err2021-04-01
err22
errOAAI
errEast, Kelly M.; Kelley, Whitley V.; Cannon, Ashley; Cochran, Meagan E.; Moss, Irene P.; May, Thomas; Nakano-Okuno, Mariko; Sodeke, Stephen O.; Edberg, Jeffrey C.; Cimino, James J.; Fouad, Mona; Curry, William A.; Hurst, Anna C. E.; Bowling, Kevin M.; Thompson, Michelle L.; Bebin, E. Martina; Johnson, Robert D.; Acemgil, Aras; Acemgil, Aras; Crossman, David K.; Finnila, Candice R.; Gray, David E.; Greve, Veronica; Hardy, Sharonda; Hiatt, Susan M.; Latner, Donald R.; Lawlor, James M. J.; Miskell, Edrika L.; Narmore, Whitney; Schach, Julie H.; Cooper, Gregory M.; Might, Matthew; Barsh, Gregory S.; Korf, Bruce R.
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Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders
err2021-04-01
err33
errOAAI
errHiatt, Susan M.; Lawlor, James M. J.; Handley, Lori H.; Ramaker, Ryne C.; Rogers, Brianne B.; Partridge, E. Christopher; Boston, Lori Beth; Williams, Melissa; Plott, Christopher B.; Jenkins, Jerry; Gray, David E.; Holt, James M.; Bowling, Kevin M.; Bebin, E. Martina; Grimwood, Jane; Schmutz, Jeremy; Cooper, Gregory M.
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Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome
err2020-11-01
err13
errOAAI
errLewis, Hannah; Samanta, Debopam; Orsell, Jenny-Li; Bosanko, Katherine A.; Rowell, Amy; Jones, Melissa; Dale, Russell C.; Taravath, Sasidharan; Hahn, Cecil D.; Krishnakumar, Deepa; Chagnon, Sarah; Keller, Stephanie; Hagebeuk, Eveline; Pathak, Sheel; Bebin, E. Martina; Arndt, Daniel H.; Alexander, John J.; Mainali, Gayatra; Coppola, Giangennaro; Maclean, Jane; Sparagana, Steven; McNamara, Nancy; Smith, Douglas M.; Raggio, Victor; Cruz, Marcos; Fernandez-Jaen, Alberto; Kava, Maina P.; Emrick, Lisa; Fish, Jennifer L.; Vanderver, Adeline; Helman, Guy; Pierson, Tyler M.; Zarate, Yuri A.
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Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons
errBRAIN
IF11.7
err2020-09-24
err36
errOAAI
errTidball, Andrew M.; Lopez-Santiago, Luis F.; Yuan, Yukun; Glenn, Trevor W.; Margolis, Joshua L.; Walker, J. Clayton; Kilbane, Emma G.; Miller, Christopher A.; Bebin, E. Martina; Perry, M. Scott; Isom, Lori L.; Parent, Jack M.
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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
err2020-06-01
err30
errOAAI
errDrivas, Theodore G.; Li, Dong; Nair, Divya; Alaimo, Joseph T.; Alders, Marielle; Altmueller, Janine; Barakat, Tahsin Stefan; Bebin, E. Martina; Bertsch, Nicole L.; Blackburn, Patrick R.; Blesson, Alyssa; Bouman, Arjan M.; Brockmann, Knut; Brunelle, Perrine; Burmeister, Margit; Cooper, Gregory M.; Denecke, Jonas; Dieux-Coeslier, Anne; Dubbs, Holly; Ferrer, Alejandro; Gal, Danna; Bartik, Lauren E.; Gunderson, Lauren B.; Hasadsri, Linda; Jain, Mahim; Karimov, Catherine; Keena, Beth; Klee, Eric W.; Kloth, Katja; Lace, Baiba; Macchiaiolo, Marina; Marcadier, Julien L.; Milunsky, Jeff M.; Napier, Melanie P.; Ortiz-Gonzalez, Xilma R.; Pichurin, Pavel N.; Pinner, Jason; Powis, Zoe; Prasad, Chitra; Radio, Francesca Clementina; Rasmussen, Kristen J.; Renaud, Deborah L.; Rush, Eric T.; Saunders, Carol; Selcen, Duygu; Seman, Ann R.; Shinde, Deepali N.; Smith, Erica D.; Smol, Thomas; Blok, Lot Snijders; Stoler, Joan M.; Tang, Sha; Tartaglia, Marco; Thompson, Michelle L.; van de Kamp, Jiddeke M.; Wang, Jingmin; Weise, Dagmar; Weiss, Karin; Woitschach, Rixa; Wollnik, Bernd; Yan, Huifang; Zackai, Elaine H.; Zampino, Giuseppe; Campeau, Philippe; Bhoj, Elizabeth
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Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder
err2019-04-01
err18
errOAAI
errHiatt, Susan M.; Thompson, Michelle L.; Prokop, Jeremy W.; Lawlor, James M. J.; Gray, David E.; Bebin, E. Martina; Rinne, Tuula; Kempers, Marlies; Pfundt, Rolph; van Bon, Bregje W.; Mignot, Cyril; Nava, Caroline; Depienne, Christel; Kalsner, Louisa; Rauch, Anita; Joset, Pascal; Bachmann-Gagescu, Ruxandra; Wentzensen, Ingrid M.; McWalter, Kirsty; Cooper, Gregory M.
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Genomic sequencing identifies secondary findings in a cohort of parent study participants
err2018-12-01
err24
errOAAI
errThompson, Michelle L.; Finnila, Candice R.; Bowling, Kevin M.; Brothers, Kyle B.; Neu, Matthew B.; Amaral, Michelle D.; Hiatt, Susan M.; East, Kelly M.; Gray, David E.; Lawlor, James M. J.; Kelley, Whitley V.; Lose, Edward J.; Rich, Carla A.; Simmons, Shirley; Levy, Shawn E.; Myers, Richard M.; Barsh, Gregory S.; Bebin, E. Martina; Cooper, Gregory M.
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Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies
err2018-12-01
err101
errOAAI
errCarvill, Gemma L.; Engel, Krysta L.; Ramamurthy, Aishwarya; Cochran, J. Nicholas; Roovers, Jolien; Stamberger, Hannah; Lim, Nicholas; Schneider, Amy L.; Hollingsworth, Georgie; Holder, Dylan H.; Regan, Brigid M.; Lawlor, James; Lagae, Lieven; Ceulemans, Berten; Bebin, E. Martina; Nguyen, John; Barsh, Gregory S.; Weckhuysen, Sarah; Meisler, Miriam; Berkovic, Samuel E.; De Jonghe, Peter; Scheffer, Ingrid E.; Myers, Richard M.; Cooper, Gregory M.; Mefford, Heather C.
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Long-term safety and treatment effects of cannabidiol in children and adults with treatment-resistant epilepsies: Expanded access program results
err2018-07-12
err154
errOAAI
errSzaflarski, Jerzy P.; Bebin, Elizabeth Martina; Comi, Anne M.; Patel, Anup D.; Joshi, Charuta; Checketts, Daniel; Beal, Jules C.; Laux, Linda C.; De Boer, Lisa M.; Wong, Matthew H.; Lopez, Merrick; Devinsky, Orrin; Lyons, Paul D.; Zentil, Pilar Pichon; Wechsler, Robert
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Genomic diagnosis for children with intellectual disability and/or developmental delay
err2017-05-30
err191
errOAAI
errBowling, Kevin M.; Thompson, Michelle L.; Amaral, Michelle D.; Finnila, Candice R.; Hiatt, Susan M.; Engel, Krysta L.; Cochran, J. Nicholas; Brothers, Kyle B.; East, Kelly M.; Gray, David E.; Kelley, Whitley V.; Lamb, Neil E.; Lose, Edward J.; Rich, Carla A.; Simmons, Shirley; Whittle, Jana S.; Weaver, Benjamin T.; Nesmith, Amy S.; Myers, Richard M.; Barsh, Gregory S.; Bebin, E. Martina; Cooper, Gregory M.
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