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1

Functional Assessment of TSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex

Hoogeveen-Westerveld, Marianne, Ekong, Rosemary, Povey, Sue, Mayer, Karin, Lannoy, Nathalie, Elmslie, Frances, Bebin, Martina, Dies, Kira, Thompson, Catherine, Sparagana, Steven P., Davies, Peter, van

Journal:

Year:

2013

Language:

english

File:

PDF, 162 KB

english, 2013

2

Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants

Wu, Joyce Y., Peters, Jurriaan M., Goyal, Monisha, Krueger, Darcy, Sahin, Mustafa, Northrup, Hope, Au, Kit Sing, Cutter, Gary, Bebin, E. Martina

Journal:

Pediatric Neurology

Year:

2016

Language:

english

File:

PDF, 602 KB

english, 2016

3

Social correlates of health status, quality of life, and mood states in patients treated with cannabidiol for epilepsy

Szaflarski, Magdalena, Hansen, Barbara, Bebin, E. Martina, Szaflarski, Jerzy P.

Journal:

Epilepsy & Behavior

Year:

2017

Language:

english

File:

PDF, 390 KB

english, 2017

4

Neurocutaneous Disorders in Children

Korf, Bruce R., Bebin, E. Martina

Journal:

Pediatrics in Review

Year:

2017

Language:

english

File:

PDF, 1.04 MB

english, 2017

5

Interactions between cannabidiol and commonly used antiepileptic drugs

Gaston, Tyler E., Bebin, E. Martina, Cutter, Gary R., Liu, Yuliang, Szaflarski, Jerzy P.

Journal:

Year:

2017

Language:

english

File:

PDF, 168 KB

english, 2017

6

Visual and Semi-automatic Non-invasive Detection of Interictal Fast Ripples: A Potential Biomarker of Epilepsy in Children with Tuberous Sclerosis Complex

Bernardo, Danilo, Nariai, Hiroki, Hussain, Shaun A., Sankar, Raman, Salamon, Noriko, Krueger, Darcy A., Sahin, Mustafa, Northrup, Hope, Martina Bebin, E., Wu, Joyce Y.

Journal:

Clinical Neurophysiology

Year:

2018

Language:

english

File:

PDF, 1.17 MB

english, 2018

7

Systematic reanalysis of genomic data improves quality of variant interpretation

Hiatt, S.M., Amaral, M.D., Bowling, K.M., Finnila, C.R., Thompson, M.L., Gray, D.E., Lawlor, J.M.J., Cochran, J. Nicholas, Bebin, E. Martina, Brothers, K.B., East, K.M., Kelley, W.V., Lamb, N.E., Levy

Journal:

Clinical Genetics

Year:

2018

Language:

english

File:

PDF, 1.03 MB

english, 2018

8

De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

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, Si

Journal:

Year:

2018

Language:

english

File:

PDF, 2.62 MB

english, 2018

9

Cannabidiol improves frequency and severity of seizures and reduces adverse events in an open-label add-on prospective study

Szaflarski, Jerzy P., Bebin, Elizabeth Martina, Cutter, Gary, DeWolfe, Jennifer, Dure, Leon S., Gaston, Tyler E., Kankirawatana, Pongkiat, Liu, Yuliang, Singh, Rani, Standaert, David G., Thomas, Ashle

Journal:

Epilepsy & Behavior

Year:

2018

Language:

english

File:

PDF, 592 KB

english, 2018

10

Long-term safety and efficacy of cannabidiol in children and adults with treatment-resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results

Laux, Linda C., Martina Bebin, E., Checketts, Daniel, Chez, Michael, Flamini, Robert, Marsh, Eric D., Miller, Ian, Nichol, Kathryn, Park, Yong, Segal, Eric, Seltzer, Laurie, Szaflarski, Jerzy P., Thie

Journal:

Epilepsy Research

Year:

2019

Language:

english

File:

PDF, 727 KB

english, 2019

11

Higher cannabidiol plasma levels are associated with better seizure response following treatment with a pharmaceutical grade cannabidiol

Szaflarski, Jerzy P., Hernando, Kathleen, Bebin, E. Martina, Gaston, Tyler E., Grayson, Leslie E., Ampah, Steve B., Moreadith, Randall

Journal:

Epilepsy & Behavior

Year:

2019

Language:

english

File:

PDF, 272 KB

english, 2019

12

Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis

Kazamel, Mohamed, Lopez, Michael A., Bebin, Martina, Bowling, Kevin, Korf, Bruce R., Barsh, Gregory S., Cooper, Gregory M., Hurst, Anna C.E., Ubogu, Eroboghene E.

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 320 KB

2020

13

Long-chain 3-hydroxyacyl-Coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome

Julie S. Fryburg, John P. Pelegano, Michael J. Bennett, E. Martina Bebin

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 1.84 MB

english, 1994

14

Intrinsic epileptogenesis of hypothalamic hamartomas in gelastic epilepsy

Dr. Ruben Kuzniecky, Barthon Guthrie, James Mountz, Martina Bebin, Edward Faught, Frank Gilliam, Hong-Gang Liu

Journal:

Annals of Neurology

Year:

1997

Language:

english

File:

PDF, 852 KB

english, 1997

15

Reply

Ruben Kuzniecky, Barthon Guthrie, James Mountz, Martina Bebin, Edward Faught, Frank Gilliam, Hong-Gang Liu

Journal:

Annals of Neurology

Year:

1998

Language:

english

File:

PDF, 232 KB

english, 1998

16

Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations

Yoshiaki Furukawa, Stephen J. Kish, E. Martina Bebin, Richard D. Jacobson, Julie S. Fryburg, Willam G. Wilson, Mitsunobu Shimadzu, Keith Hyland, Dr. Joel M. Trugman

Journal:

Annals of Neurology

Year:

1998

Language:

english

File:

PDF, 703 KB

english, 1998

17

Electroclinical and magnetoencephalographic studies in epilepsy patients with polymicrogyria

Jorge G Burneo, Martina Bebin, Ruben I Kuzniecky, Robert C Knowlton

Journal:

Epilepsy Research

Year:

2004

Language:

english

File:

PDF, 721 KB

english, 2004

18

Pharmacokinetic Study of Levetiracetam in Children

John M. Pellock, Tracy A. Glauser, E. Martina Bebin, Nathan B. Fountain, Frank J. Ritter, René M. Coupez, W. Donald Shields

Journal:

Year:

2001

Language:

english

File:

PDF, 183 KB

english, 2001

19

Efficacy and Safety of Levetiracetam in Children with Partial Seizures: An Open-label Trial

Tracy A. Glauser, John M. Pellock, E. Martina Bebin, Nathan B. Fountain, Frank J. Ritter, Christof M. Jensen, W. Donald Shields

Journal:

Year:

2002

Language:

english

File:

PDF, 220 KB

english, 2002

20

Vagus nerve stimulation in children less than 5

Jeffrey P. Blount, R. Shane Tubbs, Pongkiat Kankirawatana, Sarah Kiel, Robert Knowlton, Paul A. Grabb, Martina Bebin

Journal:

Child's Nervous System

Year:

2006

Language:

english

File:

PDF, 66 KB

english, 2006

21

Rasmussen's Encephalitis with Concomitant Cortical Dysplasia: The Role of GluR3

Cheryl Ann Palmer, James D. Geyer, Janice M. Keating, Frank Gilliam, Ruben I. Kuzniecky, Richard B. Morawetz, E. Martina Bebin

Journal:

Year:

1999

Language:

english

File:

PDF, 2.38 MB

english, 1999

22

Pharmacokinetics of Levetiracetam in Infants and Young Children with Epilepsy

Tracy A. Glauser, Wendy G. Mitchell, Arie Weinstock, Martina Bebin, Dion Chen, Rene Coupez, Armel Stockis, Zhihong (Sarah) Lu

Journal:

Year:

2007

Language:

english

File:

PDF, 95 KB

english, 2007

23

Magnetic resonance imaging abnormalities associated with vigabatrin in patients with epilepsy

James W. Wheless, Lionel Carmant, Martina Bebin, Joan A. Conry, Catherine Chiron, Roy D. Elterman, Michael Frost, Juliann M. Paolicchi, W. Donald Shields, Elizabeth A. Thiele, Mary L. Zupanc, Stephen

Journal:

Year:

2009

Language:

english

File:

PDF, 222 KB

english, 2009

24

Chorea as manifestation of epilepsia partialis continua in a child

Pongkiat Kankirawatana, Leon S. Dure IV, E.Martina Bebin

Journal:

Pediatric Neurology

Year:

2004

Language:

english

File:

PDF, 256 KB

english, 2004

25

Monosomy1p36.3 and Trisomy 19p13.3 in a Child With Periventricular Nodular Heterotopia

Maria Descartes, Fady M. Mikhail, Judith C. Franklin, Tony M. McGrath, Martina Bebin

Journal:

Pediatric Neurology

Year:

2011

Language:

english

File:

PDF, 744 KB

english, 2011

26

Functional Assessment of TSC 2 Variants Identified in Individuals with Tuberous Sclerosis Complex

Hoogeveen-Westerveld, Marianne, Ekong, Rosemary, Povey, Sue, Mayer, Karin, Lannoy, Nathalie, Elmslie, Frances, Bebin, Martina, Dies, Kira, Thompson, Catherine, Sparagana, Steven P., Davies, Peter, van

Journal:

Year:

2013

Language:

english

File:

PDF, 566 KB

english, 2013

27

Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial

Franz, David Neal, Belousova, Elena, Sparagana, Steven, Bebin, E Martina, Frost, Michael, Kuperman, Rachel, Witt, Olaf, Kohrman, Michael H, Flamini, J Robert, Wu, Joyce Y, Curatolo, Paolo, de Vries, P

Journal:

Year:

2013

Language:

english

File:

PDF, 470 KB

english, 2013

28

Cannabis, cannabidiol, and epilepsy — From receptors to clinical response

Szaflarski, Jerzy P., Martina Bebin, E.

Journal:

Epilepsy & Behavior

Year:

2014

Language:

english

File:

PDF, 341 KB

english, 2014

29

New Anticonvulsant Drugs

Dr Martina Bebin,Thomas P. Bleck

Journal:

Year:

1994

Language:

english

File:

PDF, 2.99 MB

english, 1994

30

Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study

Franz, David Neal, Belousova, Elena, Sparagana, Steven, Bebin, E Martina, Frost, Michael, Kuperman, Rachel, Witt, Olaf, Kohrman, Michael H, Flamini, J Robert, Wu, Joyce Y, Curatolo, Paolo, de Vries, P

Journal:

The Lancet Oncology

Year:

2014

Language:

english

File:

PDF, 416 KB

english, 2014

31

UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration

Fahed, Akl C., McDonough, Barbara, Gouvion, Cynthia M., Newell, Kathy L., Dure, Leon S., Bebin, Martina, Bick, Alexander G., Seidman, Jonathan G., Harter, Donald H., Seidman, Christine E.

Journal:

Annals of Neurology

Year:

2014

Language:

english

File:

PDF, 228 KB

english, 2014

32

Histological Appearance of a Chronically Stimulated Vagus Nervein a Pediatric Patient

Tubbs, R. Shane, Patwardhan, Ravish, Palmer, Cheryl Ann, Kelly, David R., Elton, Scott, Blount, Jeffrey P., Bebin, Martina, Grabb, Paul A.

Journal:

Pediatric Neurosurgery

Year:

2001

Language:

english

File:

PDF, 249 KB

english, 2001

33

Complications of chronic vagus nerve stimulation for epilepsy in children

Smyth, Matthew D., Tubbs, R. Shane, Bebin, E. Martina, Grabb, Paul A., Blount, Jeffrey P.

Journal:

Journal of Neurosurgery

Year:

2003

Language:

english

File:

PDF, 38 KB

english, 2003

34

A rare association of tuberous sclerosis and Crohnʼs disease: Report of two cases

Vadlamudi, Narendra, Bebin, Martina, Thame, Kirk, Mestre, Jose

Journal:

Inflammatory Bowel Diseases

Year:

2011

Language:

english

File:

PDF, 59 KB

english, 2011

35

Efficacy of Vagal Nerve Stimulation in Children with Medically Refractory Epilepsy

Patwardhan, Ravish V., Stong, Benjamin, Bebin, E. Martina, Mathisen, Jan, Grabb, Paul A.

Journal:

Year:

2000

Language:

english

File:

PDF, 425 KB

english, 2000

36

Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results

Brothers, Kyle B., East, Kelly M., Kelley, Whitley V., Wright, M. Frances, Westbrook, Matthew J., Rich, Carla A., Bowling, Kevin M., Lose, Edward J., Bebin, E. Martina, Simmons, Shirley, Myers, John A

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 772 KB

english, 2016

37

Temporal Lobectomy in Congenital Porencephaly Associated With Hippocampal Sclerosis

Burneo, Jorge G., Faught, Edward, Knowlton, Robert C., Martin, Roy C., Bebin, Martina, Morawetz, Richard, Kuzniecky, Ruben

Journal:

Archives of Neurology

Year:

2003

Language:

english

File:

PDF, 119 KB

english, 2003

38

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

Møller, Rikke S., Weckhuysen, Sarah, Chipaux, Mathilde, Marsan, Elise, Taly, Valerie, Bebin, E. Martina, Hiatt, Susan M., Prokop, Jeremy W., Bowling, Kevin M., Mei, Davide, Conti, Valerio, de la Grang

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 1.31 MB

english, 2016

39

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy

Guella, Ilaria, Huh, Linda, McKenzie, Marna B., Toyota, Eric B., Bebin, E. Martina, Thompson, Michelle L., Cooper, Gregory M., Evans, Daniel M., Buerki, Sarah E., Adam, Shelin, Van Allen, Margot I., N

Journal:

Neurology: Genetics

Year:

2016

Language:

english

File:

PDF, 684 KB

english, 2016

40

IPSILATERAL RASMUSSENʼS ENCEPHALITIS WITH FOCAL CORTICAL DYSPLASIA

Geyer, James, Keating, Janice, Palmer, Cheryl, Bebin, Martina, Gilliam, Frank, Kuzniecky, Ruben, Morawetz, Richard

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

1996

File:

PDF, 118 KB

1996

41

The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma

Bissler, John J., Franz, David N., Frost, Michael D., Belousova, Elena, Bebin, E. Martina, Sparagana, Steven, Berkowitz, Noah, Ridolfi, Antonia, Kingswood, J. Christopher

Journal:

Pediatric Nephrology

Year:

2017

Language:

english

File:

PDF, 849 KB

english, 2017

42

The use of cannabidiol for seizure management in patients with brain tumor-related epilepsy

Warren, Paula Province, Bebin, E. Martina, Nabors, L. Burt, Szaflarski, Jerzy P.

Journal:

Year:

2017

Language:

english

File:

PDF, 724 KB

english, 2017

43

Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants

Davis, Peter E., Filip-Dhima, Rajna, Sideridis, Georgios, Peters, Jurriaan M., Au, Kit Sing, Northrup, Hope, Bebin, E. Martina, Wu, Joyce Y., Krueger, Darcy, Sahin, Mustafa

Journal:

Year:

2017

Language:

english

File:

PDF, 1.08 MB

english, 2017

44

Efficacy of Vagal Nerve Stimulation in Children with Medically Refractory Epilepsy

Patwardhan, Ravish V., Stong, Benjamin, Bebin, E. Martina, Mathisen, Jan, Grabb, Paul A.

Journal:

Year:

2000

Language:

english

File:

PDF, 427 KB

english, 2000

45

MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

Blanchet, Patricia, Bebin, Martina, Bruet, Shaam, Cooper, Gregory M., Thompson, Michelle L., Duban-Bedu, Benedicte, Gerard, Benedicte, Piton, Amelie, Suckno, Sylvie, Deshpande, Charu, Clowes, Virginia

Journal:

Year:

2017

Language:

english

File:

PDF, 7.70 MB

english, 2017

46

Affiliate stigma and caregiver burden in intractable epilepsy

Hansen, Barbara, Szaflarski, Magdalena, Bebin, E. Martina, Szaflarski, Jerzy P.

Journal:

Epilepsy & Behavior

Year:

2018

Language:

english

File:

PDF, 376 KB

english, 2018

47

Long-term safety and treatment effects of cannabidiol in children and adults with treatment-resistant epilepsies: Expanded access program results

Szaflarski, 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, De

Journal:

Year:

2018

Language:

english

File:

PDF, 1.07 MB

english, 2018

48

Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis

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,

Journal:

Year:

2018

Language:

english

File:

PDF, 1.30 MB

english, 2018

49

High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex

Hussain, Shaun A., Schmid, Ernst, Peters, Jurriaan M., Goyal, Monisha, Bebin, E. Martina, Northrup, Hope, Sahin, Mustafa, Krueger, Darcy A., Wu, Joyce Y., Pearson, Deborah, Williams, Marian E., Hanson

Journal:

Epilepsy Research

Year:

2018

Language:

english

File:

PDF, 771 KB

english, 2018

50

[IEEE 2018 40th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) - Honolulu, HI (2018.7.18-2018.7.21)] 2018 40th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) - Automated Detection of High Frequency Oscillations in Human Scalp Electroencephalogram

Charupanit, Krit, Nunez, Michael D., Bernardo, Danilo, Bebin, Martina, Krueger, Darcy A., Northrup, Hope, Sahin, Mustafa, Wu, Joyce Y., Lopour, Beth A.

Year:

2018

Language:

english

File:

PDF, 837 KB

english, 2018

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