Search Results - "Goldberg, Hadassa"

Autoimmune Epilepsy - Novel Multidisciplinary Analysis, Discoveries and Insights by Levite, Mia, Goldberg, Hadassa

“…Epilepsy affects ~50 million people. In ~30% of patients the etiology is unknown, and ~30% are unresponsive to anti-epileptic drugs. Intractable epilepsy often…”
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Early onset epileptic encephalopathy caused by de novo SCN8A mutations by Ohba, Chihiro, Kato, Mitsuhiro, Takahashi, Satoru, Lerman‐Sagie, Tally, Lev, Dorit, Terashima, Hiroshi, Kubota, Masaya, Kawawaki, Hisashi, Matsufuji, Mayumi, Kojima, Yasuko, Tateno, Akihiko, Goldberg‐Stern, Hadassa, Straussberg, Rachel, Marom, Dafna, Leshinsky‐Silver, Esther, Nakashima, Mitsuko, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Miyake, Noriko, Tanaka, Fumiaki, Matsumoto, Naomichi, Saitsu, Hirotomo

“…Summary Objective De novo SCN8A mutations have been reported in patients with epileptic encephalopathy. Herein we report seven patients with de novo…”
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Glucose transporter 1 deficiency in the idiopathic generalized epilepsies by Arsov, Todor, Mullen, Saul A., Rogers, Sue, Phillips, A. Marie, Lawrence, Kate M., Damiano, John A., Goldberg-Stern, Hadassa, Afawi, Zaid, Kivity, Sara, Trager, Chantal, Petrou, Steven, Berkovic, Samuel F., Scheffer, Ingrid E.

“…Objective: We examined whether glucose transporter 1 (GLUT1) deficiency causes common idiopathic generalized epilepsies (IGEs). Methods: The IGEs are common,…”
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Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy by Spinelli, Egidio, Christensen, Kyle R, Bryant, Emily, Schneider, Amy, Rakotomamonjy, Jennifer, Muir, Alison M, Giannelli, Jessica, Littlejohn, Rebecca O, Roeder, Elizabeth R, Schmidt, Berkley, Wilson, William G, Marco, Elysa J, Iwama, Kazuhiro, Kumada, Satoko, Pisano, Tiziana, Barba, Carmen, Vetro, Annalisa, Brilstra, Eva H, van Jaarsveld, Richard H, Matsumoto, Naomichi, Goldberg-Stern, Hadassa, Carney, Patrick W, Andrews, P Ian, El Achkar, Christelle M, Berkovic, Sam, Rodan, Lance H, McWalter, Kirsty, Guerrini, Renzo, Scheffer, Ingrid E, Mefford, Heather C, Mandelstam, Simone, Laux, Linda, Millichap, John J, Guemez-Gamboa, Alicia, Nairn, Angus C, Carvill, Gemma L

“…The MAST family of microtubule-associated serine-threonine kinases (STKs) have distinct expression patterns in the developing and mature human and mouse brain…”
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Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literature by Stern, Tomer, Orenstein, Naama, Fellner, Avi, Lev‐El Halabi, Noa, Shuldiner, Alan R., Gonzaga‐Jauregui, Claudia, Lidzbarsky, Gabriel, Basel‐Salmon, Lina, Goldberg‐Stern, Hadassa

“…A male patient with a de novo mutation in the YWHAG gene and mild phenotype is presented. He had normal delivery and normal development, with normal speech and…”
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Baseline characteristics and predictors for early implantation of vagus nerve stimulation therapy in people with drug‐resistant epilepsy: Observations from an international prospective outcomes registry (CORE‐VNS) by Kwan, Patrick, Boffini, Massimiliano, Fahoum, Firas, El Tahry, Riëm, O'Brien, Terence J., Keough, Karen, Boggs, Jane, Goldberg‐Stern, Hadassa, Beraldi, Francesca, Giannicola, Gaia, Lee, Ying‐Chieh, Sen, Arjune

“…Objective Vagus nerve stimulation (VNS) Therapy is routinely indicated for people with drug‐resistant epilepsy (DRE). We analyzed the baseline characteristics…”
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RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia by Daniella, Nishri, Hadassa, Goldberg-Stern, Iris, Noyman, Lubov, Blumkin, Sara, Kivity, Hirotomo, Saitsu, Mitsuko, Nakashima, Naomichi, Matsumoto, Esther, Leshinsky-Silver, Tally, Lerman- Sagie, Dorit, Lev

“…Abstract Introduction Early onset epileptic encephalopathies (EOEEs) are a group of devastating diseases, manifesting in the first year of life with frequent…”
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Attention-Deficit Disorders and Epilepsy in Childhood: Incidence, Causative Relations and Treatment Possibilities by Kaufmann, Rami, Goldberg-Stern, Hadassa, Shuper, Avinoam

“…At least 20% of children with epilepsy have clinical attention-deficit hyperactivity disorder (ADHD) compared to 3% to 7% of the general pediatric population…”
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De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing by Saitsu, Hirotomo, Akita, Tenpei, Tohyama, Jun, Goldberg-Stern, Hadassa, Kobayashi, Yu, Cohen, Roni, Kato, Mitsuhiro, Ohba, Chihiro, Miyatake, Satoko, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Fukuda, Atsuo, Matsumoto, Naomichi

“…The voltage-gated Kv2.1 potassium channel encoded by KCNB1 produces the major delayed rectifier potassium current in pyramidal neurons. Recently, de novo…”
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Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes by Piao, Xianhua, Chang, Bernard S., Bodell, Adria, Woods, Katelyn, BenZeev, Bruria, Topcu, Meral, Guerrini, Renzo, Goldberg-Stern, Hadassa, Sztriha, Laszlo, Dobyns, William B., Barkovich, A. James, Walsh, Christopher A.

“…Human cerebral cortical polymicrogyria is a heterogeneous disorder, with only one known gene (GPR56) associated with an apparently distinctive phenotype,…”
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Clinical spectrum and medical treatment of children with electrical status epilepticus in sleep (ESES) by Kramer, Uri, Sagi, Liora, Goldberg‐Stern, Hadassa, Zelnik, Nathanel, Nissenkorn, Andreea, Ben‐Zeev, Bruria

“…Summary Purposes:  To describe the clinical spectrum and to evaluate the efficacy of different therapeutic agents in children with electrical status…”
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The prevalence of atypical presentations and comorbidities of benign childhood epilepsy with centrotemporal spikes by Tovia, Eliel, Goldberg‐Stern, Hadassa, Ben Zeev, Bruria, Heyman, Eli, Watemberg, Nathan, Fattal‐Valevski, Aviva, Kramer, Uri

“…Summary Purpose:  Benign childhood epilepsy with centrotemporal spikes (BCECTS) is the most common epileptic syndrome in childhood. The outcome is usually…”
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Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings by Zerem, Ayelet, Lev, Dorit, Blumkin, Lubov, Goldberg-Stern, Hadassa, Michaeli-Yossef, Yael, Halevy, Ayelet, Kivity, Sara, Nakamura, Kazuyuki, Matsumoto, Naomichi, Leshinsky-Silver, Esther, Saitsu, Hirotomo, Lerman-Sagie, Tally

“…Abstract Ohtahara syndrome is a devastating early infantile epileptic encephalopathy caused by mutations in different genes. We describe a patient with…”
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Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability by Li, Lin, Ghorbani, Mohammad, Weisz-Hubshman, Monika, Rousseau, Justine, Thiffault, Isabelle, Schnur, Rhonda E, Breen, Catherine, Oegema, Renske, Weiss, Marjan Mm, Waisfisz, Quinten, Welner, Sara, Kingston, Helen, Hills, Jordan A, Boon, Elles Mj, Basel-Salmon, Lina, Konen, Osnat, Goldberg-Stern, Hadassa, Bazak, Lily, Tzur, Shay, Jin, Jianliang, Bi, Xiuli, Bruccoleri, Michael, McWalter, Kirsty, Cho, Megan T, Scarano, Maria, Schaefer, G Bradley, Brooks, Susan S, Hughes, Susan Starling, van Gassen, K L I, van Hagen, Johanna M, Pandita, Tej K, Agrawal, Pankaj B, Campeau, Philippe M, Yang, Xiang-Jiao

“…Epigenetic integrity is critical for many eukaryotic cellular processes. An important question is how different epigenetic regulators control development and…”
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Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome by Grinton, Bronwyn E., Heron, Sarah E., Pelekanos, James T., Zuberi, Sameer M., Kivity, Sara, Afawi, Zaid, Williams, Tristiana C., Casalaz, Dan M., Yendle, Simone, Linder, Ilan, Lev, Dorit, Lerman‐Sagie, Tally, Malone, Stephen, Bassan, Haim, Goldberg‐Stern, Hadassa, Stanley, Thorsten, Hayman, Michael, Calvert, Sophie, Korczyn, Amos D., Shevell, Michael, Scheffer, Ingrid E., Mulley, John C., Berkovic, Samuel F.

“…Summary Objective We evaluated seizure outcome in a large cohort of familial neonatal seizures (FNS), and examined phenotypic overlap with different molecular…”
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Vagus nerve stimulation therapy in people with drug-resistant epilepsy (CORE-VNS): rationale and design of a real-world post-market comprehensive outcomes registry by Sen, Arjune, Verner, Ryan, Valeriano, James P, Lee, Ricky, Zafar, Muhammad, Thomas, Rhys, Kotulska, Katarzyna, Jespers, Ellen, Dibué, Maxine, Kwan, Patrick, Riney, Kate, Harvey, Simon, Kwan, Patrick, O’Brien, Terry, Nagarajan, Lakshmi, von Oertzen, Tim, El Tahry, Riem, Vonck, Kristl, Julião deOliveira, Andréa, D’Andrea Meira, Isabella, Keezer, Mark, Veilleux, Martin, Myers, Kenneth, Burneo, Jorge, Andrade, Andrea, Luan, GuoMing, Li, Fangcheng, Xu, JiWen, Sarma Gosala, Raja, Udani, Vrajesh, Kurwale, Nilesh, Tzadok, Michal, Fahoum, Firas, Goldberg-Stern, Hadassa, Tinuper, Paolo, Specchio, Nicola, Shimada, Seijiro, Ono, Tomonori, Gunning, Boudewijn, Wagner, Louis, Neuteboom, Rinze, Krzystanek, Ewa, Kotulska, Katarzyna, Al-Said, Youssef, Alkhateeb, Mashael Omar, Sieradzan, Kasia, McCormick, David, Thomas, Rhys, Cochius, Jeffrey, Reuber, Markus, Keough, Karen, Frost, Marc, Collier, Marie, Liow, Kore, Lee, Ricky, Boggs, Jane, Sadek, Ahmed, Wheless, James, Morris, George, Gelfand, Michael, Bagic, Anto, Valeriano, James, Zafar, Muhammad, Leary, Linda, Zhou, Xiangping, Ferreira, Jose, Motamedi, Gholam, Lyons, Paul, Sen, Arjune, Li, Yongjie, Iwasaki, Masaki

“…IntroductionThe Vagus Nerve Stimulation Therapy System (VNS Therapy) is an adjunctive neuromodulatory therapy that can be efficacious in reducing the frequency…”
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Autoimmune epilepsy: Distinct subpopulations of epilepsy patients harbor serum autoantibodies to either glutamate/AMPA receptor GluR3, glutamate/NMDA receptor subunit NR2A or double-stranded DNA by Ganor, Yonatan, Goldberg-Stern, Hadassa, Lerman-Sagie, Tally, Teichberg, Vivian I., Levite, Mia

“…We studied 82 patients with different types of epilepsy and 49 neurologically intact non-epileptic controls, and identified three different subpopulations of…”
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Endocrine Effects of Valproate in Adolescent Girls with Epilepsy by De Vries, Liat, Karasik, Anna, Landau, Zohar, Phillip, Moshe, Kiviti, Sara, Goldberg‐Stern, Hadassa

“…Purpose: To investigate the effect of epilepsy and/or valproate (VPA) monotherapy on physical growth, weight gain, pubertal development, and hormonal status in…”
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Thiamine Deficiency in Infancy: Long-Term Follow-Up by Mimouni-Bloch, Aviva, MD, Goldberg-Stern, Hadassa, MD, Strausberg, Rachel, MD, Brezner, Amichai, MD, Heyman, Eli, MD, Inbar, Dov, MD, Kivity, Sara, MD, Zvulunov, Alex, MD, MHA, Sztarkier, Ignacio, MD, Fogelman, Rami, MD, Fattal-Valevski, Aviva, MD, MHA

“…Abstract Background In 2003, several hundred Israeli infants risked thiamine deficiency after being fed a soy-based formula deficient in thiamine…”
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Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies by Abou‐Khalil, Bassel, Afawi, Zaid, Allen, Andrew S., Bautista, Jocelyn F., Bellows, Susannah T., Berkovic, Samuel F., Bluvstein, Judith, Burgess, Rosemary, Cascino, Gregory, Cossette, Patrick, Cristofaro, Sabrina, Crompton, Douglas E., Delanty, Norman, Devinsky, Orrin, Dlugos, Dennis, Ellis, Colin A., Epstein, Michael P., Fountain, Nathan B., Freyer, Catharine, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Goldberg‐Stern, Hadassa, Goldstein, David B., Gravel, Micheline, Haas, Kevin, Haut, Sheryl, Heinzen, Erin L., Kirsch, Heidi E., Kivity, Sara, Knowlton, Robert, Korczyn, Amos D., Kossoff, Eric, Kuzniecky, Ruben, Loeb, Rebecca, Lowenstein, Daniel H., Marson, Anthony G., McCormack, Mark, McKenna, Kevin, Mefford, Heather C., Motika, Paul, Mullen, Saul A., J. O'Brien, Terence, Ottman, Ruth, Paolicchi, Juliann, Parent, Jack M., Paterson, Sarah, Petrou, Steven, Petrovski, Slavé, Owen Pickrell, William, Poduri, Annapurna, Rees, Mark I., Sadleir, Lynette G., Scheffer, Ingrid E., Shih, Jerry, Singh, Rani, Sirven, Joseph, Smith, Michael, Smith, Phil E. M., Thio, Liu Lin, Thomas, Rhys H., Venkat, Anu, Vining, Eileen, Von Allmen, Gretchen, Weisenberg, Judith, Widdess‐Walsh, Peter, Winawer, Melodie R.

“…Objective Classification of epilepsy into types and subtypes is important for both clinical care and research into underlying disease mechanisms. A…”
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