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Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons.
Published in:
2020
By:
- Tidball, 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;
- Clayton Walker, J;
- Martina Bebin, E;
- Scott Perry, M
Publication type:
journal article
Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures.
Published in:
Journal of Child Neurology, 2024, v. 39, n. 5/6, p. 178, doi. 10.1177/08830738241248685
By:
- Srivastava, Siddharth;
- Yang, Fanghan;
- Prohl, Anna K.;
- Davis, Peter E.;
- Capal, Jamie K.;
- Filip-Dhima, Rajna;
- Bebin, E. Martina;
- Krueger, Darcy A.;
- Northrup, Hope;
- Wu, Joyce Y.;
- Warfield, Simon K.;
- Sahin, Mustafa;
- Zhang, Bo
Publication type:
Article
Efficacy and Safety of Levetiracetam in Children with Partial Seizures: An Open-label Trial.
Published in:
Epilepsia (Series 4), 2002, v. 43, n. 5, p. 518, doi. 10.1046/j.1528-1157.2002.13101.x
By:
- Glauser, Tracy A;
- Pellock, John M;
- Bebin, E. Martina;
- Fountain, Nathan B;
- Ritter, Frank J;
- Jensen, Christof M;
- Shields, W. Donald
Publication type:
Article
Pharmacokinetic Study of Levetiracetam in Children.
Published in:
Epilepsia (Series 4), 2001, v. 42, n. 12, p. 1574, doi. 10.1046/j.1528-1157.2001.41300.x
By:
- Pellock, John M.;
- Glauser, Tracy A.;
- Bebin, E. Martina;
- Fountain, Nathan B.;
- Ritter, Frank J.;
- Coupez, René M.;
- Shields, W. Donald
Publication type:
Article
Limited utility of structural MRI to identify the epileptogenic zone in young children with tuberous sclerosis.
Published in:
Journal of Neuroimaging, 2022, v. 32, n. 5, p. 991, doi. 10.1111/jon.13016
By:
- Nijman, Maaike;
- Yang, Edward;
- Jaimes, Camilo;
- Prohl, Anna K.;
- Sahin, Mustafa;
- Krueger, Darcy A.;
- Wu, Joyce Y.;
- Northrup, Hope;
- Stone, Scellig S.D.;
- Madsen, Joseph R.;
- Fallah, Aria;
- Blount, Jeffrey P.;
- Weiner, Howard L.;
- Grayson, Leslie;
- Bebin, E. Martina;
- Porter, Brenda E.;
- Warfield, Simon K.;
- Prabhu, Sanjay P.;
- Peters, Jurriaan M.
Publication type:
Article
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Published in:
Human Genetics, 2018, v. 137, n. 5, p. 375, doi. 10.1007/s00439-018-1887-y
By:
- Snijders Blok, Lot;
- Hiatt, Susan M.;
- Bowling, Kevin M.;
- Prokop, Jeremy W.;
- Engel, Krysta L.;
- Cochran, J. Nicholas;
- Bebin, E. Martina;
- Bijlsma, Emilia K.;
- Ruivenkamp, Claudia A. L.;
- Terhal, Paulien;
- Simon, Marleen E. H.;
- Smith, Rosemarie;
- Hurst, Jane A.;
- The DDD study;
- McLaughlin, Heather;
- Person, Richard;
- Crunk, Amy;
- Wangler, Michael F.;
- Streff, Haley;
- Symonds, Joseph D.
Publication type:
Article
EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex.
Published in:
Journal of Autism & Developmental Disorders, 2020, v. 50, n. 3, p. 916, doi. 10.1007/s10803-019-04326-0
By:
- Cook, Ian A.;
- Wilson, Andrew C.;
- Peters, Jurriaan M.;
- Goyal, Monisha N.;
- Bebin, E. Martina;
- Northrup, Hope;
- Krueger, Darcy;
- Leuchter, Andrew F.;
- Sahin, Mustafa
Publication type:
Article
Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder.
Published in:
Journal of Neurodevelopmental Disorders, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s11689-019-9293-x
By:
- Prohl, Anna K.;
- Scherrer, Benoit;
- Tomas-Fernandez, Xavier;
- Davis, Peter E.;
- Filip-Dhima, Rajna;
- Prabhu, Sanjay P.;
- Peters, Jurriaan M.;
- Bebin, E. Martina;
- Krueger, Darcy A.;
- Northrup, Hope;
- Wu, Joyce Y.;
- Sahin, Mustafa;
- Warfield, Simon K.;
- on behalf of the TACERN Study Group;
- Goyal, Monisha;
- Pearson, Deborah A.;
- Williams, Marian E.;
- Hanson, Ellen;
- Bing, Nicole;
- Kent, Bridget
Publication type:
Article
Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study.
Published in:
Frontiers in Integrative Neuroscience, 2019, p. 1, doi. 10.3389/fnint.2019.00024
By:
- Prohl, Anna K.;
- Scherrer, Benoit;
- Tomas-Fernandez, Xavier;
- Filip-Dhima, Rajna;
- Kapur, Kush;
- Velasco-Annis, Clemente;
- Clancy, Sean;
- Carmody, Erin;
- Dean, Meghan;
- Valle, Molly;
- Prabhu, Sanjay P.;
- Peters, Jurriaan M.;
- Bebin, E. Martina;
- Krueger, Darcy A.;
- Northrup, Hope;
- Wu, Joyce Y.;
- Sahin, Mustafa;
- Warfield, Simon K.
Publication type:
Article
Long‐term efficacy and safety of cannabidiol in patients with tuberous sclerosis complex: 3‐year results from the cannabidiol expanded access program.
Published in:
Epilepsia Open, 2024, v. 9, n. 5, p. 1816, doi. 10.1002/epi4.13013
By:
- Weinstock, Arie;
- Bebin, E. Martina;
- Checketts, Daniel;
- Clark, Gary D.;
- Szaflarski, Jerzy P.;
- Seltzer, Laurie E.;
- Thiele, Elizabeth A.;
- Sahebkar, Farhad
Publication type:
Article
Final analysis of potential drug–drug interactions between highly purified cannabidiol and anti‐seizure medications in an open‐label expanded access program.
Published in:
Epilepsia Open, 2023, v. 8, n. 4, p. 1405, doi. 10.1002/epi4.12815
By:
- Gaston, Tyler E.;
- Bebin, E. Martina;
- Cutter, Gary R.;
- Grayson, Leslie;
- Szaflarski, Jerzy P.
Publication type:
Article
Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial.
Published in:
JAMA Neurology, 2021, v. 78, n. 3, p. 285, doi. 10.1001/jamaneurol.2020.4607
By:
- Thiele, Elizabeth A.;
- Bebin, E. Martina;
- Bhathal, Hari;
- Jansen, Floor E.;
- Kotulska, Katarzyna;
- Lawson, John A.;
- O'Callaghan, Finbar J.;
- Wong, Michael;
- Sahebkar, Farhad;
- Checketts, Daniel;
- Knappertz, Volker
Publication type:
Article
Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex.
Published in:
PLoS ONE, 2020, v. 15, n. 4, p. 1, doi. 10.1371/journal.pone.0232376
By:
- Sánchez Fernández, Iván;
- Yang, Edward;
- Calvachi, Paola;
- Amengual-Gual, Marta;
- Wu, Joyce Y.;
- Krueger, Darcy;
- Northrup, Hope;
- Bebin, Martina E.;
- Sahin, Mustafa;
- Yu, Kun-Hsing;
- Peters, Jurriaan M.
Publication type:
Article
Efficacy of cannabidiol in convulsive and nonconvulsive seizure types associated with treatment‐resistant epilepsies in the Expanded Access Program.
Published in:
Epilepsia (Series 4), 2023, v. 64, n. 8, p. e156, doi. 10.1111/epi.17665
By:
- Flamini, 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
Publication type:
Article
Long‐term cannabidiol treatment for seizures in patients with tuberous sclerosis complex: An open‐label extension trial.
Published in:
Epilepsia (Series 4), 2022, v. 63, n. 2, p. 426, doi. 10.1111/epi.17150
By:
- Thiele, Elizabeth A.;
- Bebin, E. Martina;
- Filloux, Francis;
- Kwan, Patrick;
- Loftus, Rachael;
- Sahebkar, Farhad;
- Sparagana, Steven;
- Wheless, James
Publication type:
Article
Response: Letter to the Editor ‐ Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study.
Published in:
Epilepsia (Series 4), 2020, v. 61, n. 4, p. 824, doi. 10.1111/epi.16458
By:
- Wu, Joyce;
- Bebin, E. Martina
Publication type:
Article
Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study.
Published in:
Epilepsia (Series 4), 2019, v. 60, n. 12, p. 2428, doi. 10.1111/epi.16379
By:
- Wu, Joyce Y.;
- Goyal, Monisha;
- Peters, Jurriaan M.;
- Krueger, Darcy;
- Sahin, Mustafa;
- Northrup, Hope;
- Au, Kit S.;
- O'Kelley, Sarah;
- Williams, Marian;
- Pearson, Deborah A.;
- Hanson, Ellen;
- Byars, Anna W.;
- Krefting, Jessica;
- Beasley, Mark;
- Cutter, Gary;
- Limdi, Nita;
- Bebin, E. Martina
Publication type:
Article
Interactions between cannabidiol and commonly used antiepileptic drugs.
Published in:
Epilepsia (Series 4), 2017, v. 58, n. 9, p. 1586, doi. 10.1111/epi.13852
By:
- Gaston, Tyler E.;
- Bebin, E. Martina;
- Cutter, Gary R.;
- Liu, Yuliang;
- Szaflarski, Jerzy P.
Publication type:
Article
Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis.
Published in:
Annals of Neurology, 2023, v. 93, n. 3, p. 577, doi. 10.1002/ana.26551
By:
- Cohen, Alexander L.;
- Kroeck, Mallory R.;
- Wall, Juliana;
- McManus, Peter;
- Ovchinnikova, Arina;
- Sahin, Mustafa;
- Krueger, Darcy A.;
- Bebin, E. Martina;
- Northrup, Hope;
- Wu, Joyce Y.;
- Warfield, Simon K.;
- Peters, Jurriaan M.;
- Fox, Michael D.
Publication type:
Article
Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network.
Published in:
Annals of Neurology, 2021, v. 89, n. 4, p. 726, doi. 10.1002/ana.26015
By:
- Cohen, Alexander L.;
- Mulder, Brechtje P. F.;
- Prohl, Anna K.;
- Soussand, Louis;
- Davis, Peter;
- Kroeck, Mallory R.;
- McManus, Peter;
- Gholipour, Ali;
- Scherrer, Benoit;
- Bebin, E. Martina;
- Wu, Joyce Y.;
- Northrup, Hope;
- Krueger, Darcy A.;
- Sahin, Mustafa;
- Warfield, Simon K.;
- Fox, Michael D.;
- Peters, Jurriaan M.
Publication type:
Article
Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment‐Resistant Epilepsy.
Published in:
Clinical Pharmacology & Therapeutics, 2021, v. 110, n. 5, p. 1368, doi. 10.1002/cpt.2408
By:
- Davis, Brittney H.;
- Beasley, T. Mark;
- Amaral, Michelle;
- Szaflarski, Jerzy P.;
- Gaston, Tyler;
- Perry Grayson, Leslie;
- Standaert, David G;
- Bebin, E. Martina;
- Limdi, Nita A.
Publication type:
Article
The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma.
Published in:
Pediatric Nephrology, 2018, v. 33, n. 1, p. 101, doi. 10.1007/s00467-017-3806-1
By:
- Bissler, John J.;
- Franz, David N.;
- Frost, Michael D.;
- Belousova, Elena;
- Bebin, E. Martina;
- Sparagana, Steven;
- Berkowitz, Noah;
- Ridolfi, Antonia;
- Kingswood, J. Christopher
Publication type:
Article
Long-Term Use of Everolimus in Patients with Tuberous Sclerosis Complex: Final Results from the EXIST-1 Study.
Published in:
PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0158476
By:
- Franz, David N.;
- Belousova, Elena;
- Sparagana, Steven;
- Bebin, E. Martina;
- Frost, Michael D.;
- Kuperman, Rachel;
- Witt, Olaf;
- Kohrman, Michael H.;
- Flamini, J. Robert;
- Wu, Joyce Y.;
- Curatolo, Paolo;
- de Vries, Petrus J.;
- Berkowitz, Noah;
- Niolat, Julie;
- Jóźwiak, Sergiusz
Publication type:
Article
Reply to "Chance Bias Arising from TSC2 Mutation Imbalance in the PREVeNT Trial".
Published in:
Annals of Neurology, 2024, v. 95, n. 2, p. 414, doi. 10.1002/ana.26857
By:
- Bebin, E. Martina
Publication type:
Article
Commentary Regarding the Results of the PREVeNT and EPISTOP Trials.
Published in:
Annals of Neurology, 2024, v. 95, n. 1, p. 12, doi. 10.1002/ana.26829
By:
- Jóźwiak, Sergiusz;
- Kotulska, Katarzyna;
- Bebin, E. Martina;
- Krueger, Darcy A.
Publication type:
Article
Prognosis in Sturge-Weber Disease: Comparison of Unihemispheric and Bihemispheric Involvement.
Published in:
Journal of Child Neurology, 1988, v. 3, n. 3, p. 181, doi. 10.1177/088307388800300306
By:
- Bebin, E. Martina;
- Gomez, Manuel R.
Publication type:
Article
The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1.
Published in:
Nephrology Dialysis Transplantation, 2014, v. 29, n. 6, p. 1203, doi. 10.1093/ndt/gfu013
By:
- Kingswood, J. Chris;
- Jozwiak, Sergiusz;
- Belousova, Elena D.;
- Frost, Michael D.;
- Kuperman, Rachel A.;
- Bebin, E. Martina;
- Korf, Bruce R.;
- Flamini, J. Robert;
- Kohrman, Michael H.;
- Sparagana, Steven P.;
- Wu, Joyce Y.;
- Brechenmacher, Thomas;
- Stein, Karen;
- Berkowitz, Noah;
- Bissler, John J.;
- Franz, David N.
Publication type:
Article
Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis.
Published in:
PLoS ONE, 2018, v. 13, n. 9, p. 1, doi. 10.1371/journal.pone.0201005
By:
- Bissler, John J.;
- Nonomura, Norio;
- Budde, Klemens;
- Zonnenberg, Bernard A.;
- Fischereder, Michael;
- Voi, Maurizio;
- Louveau, Anne-Laure;
- Herbst, Fabian;
- Bebin, E. Martina;
- Curatolo, Paolo;
- Zonta, Andrea;
- Belousova, Elena
Publication type:
Article
Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations.
Published in:
Annals of Neurology, 1998, v. 44, n. 1, p. 10, doi. 10.1002/ana.410440107
By:
- Furukawa, Yoshiaki;
- Kish, Stephen J.;
- Bebin, E. Martina;
- Jacobson, Richard D.;
- Fryburg, Julie S.;
- Wilson, Willam G.;
- Shimadzu, Mitsunobu;
- Hyland, Keith;
- Trugman, Joel M.
Publication type:
Article

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