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5. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Author

den Hoed, Joery, de Boer, Elke, Voisin, Norine, Dingemans, Alexander, Guex, Nicolas, Wiel, Laurens, Nellaker, Christoffer, Amudhavalli, Shivarajan, Banka, Siddharth, Bena, Frederique, Ben-Zeev, Bruria, Bonagura, Vincent, Bruel, Ange-Line, Brunet, Theresa, Brunner, Han, Chew, Hui, Chrast, Jacqueline, Cimbalistienė, Loreta, Coon, Hilary, Délot, Emmanuèlle, Démurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Donnai, Dian, Dyment, David, Elpeleg, Orly, Faivre, Laurence, Gilissen, Christian, Granger, Leslie, Haber, Benjamin, Hachiya, Yasuo, Abedi, Yasmin, Hanebeck, Jennifer, Hehir-Kwa, Jayne, Horist, Brooke, Itai, Toshiyuki, Jackson, Adam, Jewell, Rosalyn, Jones, Kelly, Joss, Shelagh, Kashii, Hirofumi, Kato, Mitsuhiro, Kattentidt-Mouravieva, Anja, Kok, Fernando, Kotzaeridou, Urania, Krishnamurthy, Vidya, Kučinskas, Vaidutis, Kuechler, Alma, Lavillaureix, Alinoë, Liu, Pengfei, Manwaring, Linda, Matsumoto, Naomichi, Mazel, Benoît, McWalter, Kirsty, Meiner, Vardiella, Mikati, Mohamad, Miyatake, Satoko, Mizuguchi, Takeshi, Moey, Lip, Mohammed, Shehla, Mor-Shaked, Hagar, Mountford, Hayley, Newbury-Ecob, Ruth, Odent, Sylvie, Orec, Laura, Osmond, Matthew, Palculict, Timothy, Parker, Michael, Petersen, Andrea, Pfundt, Rolph, Preikšaitienė, Eglė, Radtke, Kelly, Ranza, Emmanuelle, Rosenfeld, Jill, Santiago-Sim, Teresa, Schwager, Caitlin, Sinnema, Margje, Snijders Blok, Lot, Spillmann, Rebecca, Stegmann, Alexander, Thiffault, Isabelle, Tran, Linh, Vaknin-Dembinsky, Adi, Vedovato-Dos-Santos, Juliana, Schrier Vergano, Samantha, Vilain, Eric, Vitobello, Antonio, Wagner, Matias, Waheeb, Androu, Willing, Marcia, Zuccarelli, Britton, Kini, Usha, Newbury, Dianne, Kleefstra, Tjitske, Reymond, Alexandre, Fisher, Simon, and Vissers, Lisenka

Subjects
HPO-based analysis, SATB1, cell-based functional assays, de novo variants, intellectual disability, neurodevelopmental disorders, seizures, teeth abnormalities, Chromatin, Female, Genetic Association Studies, Haploinsufficiency, Humans, Male, Matrix Attachment Region Binding Proteins, Models, Molecular, Mutation, Mutation, Missense, Neurodevelopmental Disorders, Protein Binding, Protein Domains, Transcription, Genetic
Abstract

Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene, SATB1, cause clinically overlapping but distinct neurodevelopmental disorders. Clinical evaluation of 42 individuals carrying SATB1 variants identified overt genotype-phenotype relationships, associated with different pathophysiological mechanisms, established by functional assays. Missense variants in the CUT1 and CUT2 DNA-binding domains result in stronger chromatin binding, increased transcriptional repression, and a severe phenotype. In contrast, variants predicted to result in haploinsufficiency are associated with a milder clinical presentation. A similarly mild phenotype is observed for individuals with premature protein truncating variants that escape nonsense-mediated decay, which are transcriptionally active but mislocalized in the cell. Our results suggest that in-depth mutation-specific genotype-phenotype studies are essential to capture full disease complexity and to explain phenotypic variability.

Published
2021

6. Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

Author

Langhammer, Franziska, Maroofian, Reza, Badar, Rueda, Gregor, Anne, Rochman, Michelle, Ratliff, Jeffrey B., Koopmans, Marije, Herget, Theresia, Hempel, Maja, Kortüm, Fanny, Heron, Delphine, Mignot, Cyril, Keren, Boris, Brooks, Susan, Botti, Christina, Ben-Zeev, Bruria, Argilli, Emanuela, Sherr, Elliot H., Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Bakhtiari, Somayeh, Kruer, Michael C., Salih, Mustafa A., Kuechler, Alma, Muller, Eric A., Blocker, Karli, Kuismin, Outi, Park, Kristen L., Kochhar, Aaina, Brown, Kathleen, Ramanathan, Subhadra, Clark, Robin D., Elgizouli, Magdeldin, Melikishvili, Gia, Tabatadze, Nazhi, Stark, Zornitza, Mirzaa, Ghayda M., Ong, Jinfon, Grasshoff, Ute, Bevot, Andrea, von Wintzingerode, Lydia, Jamra, Rami A., Hennig, Yvonne, Goldenberg, Paula, Al Alam, Chadi, Charif, Majida, Boulouiz, Redouane, Bellaoui, Mohammed, Amrani, Rim, Al Mutairi, Fuad, Tamim, Abdullah M., Abdulwahab, Firdous, Alkuraya, Fowzan S., Khouj, Ebtissal M., Alvi, Javeria R., Sultan, Tipu, Hashemi, Narges, Karimiani, Ehsan G., Ashrafzadeh, Farah, Imannezhad, Shima, Efthymiou, Stephanie, Houlden, Henry, Sticht, Heinrich, and Zweier, Christiane

Published
2023
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7. De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy

Author

von Wintzingerode, Lydia, Ben-Zeev, Bruria, Cesario, Claudia, Chan, Katie M., Depienne, Christel, Elpeleg, Orly, Iascone, Maria, Kelley, Whitley V., Nassogne, Marie-Cécile, Niceta, Marcello, Pezzani, Lidia, Rahner, Nils, Revencu, Nicole, Bekheirnia, Mir Reza, Santiago-Sim, Teresa, Tartaglia, Marco, Thompson, Michelle L., Trivisano, Marina, Hentschel, Julia, Sticht, Heinrich, Abou Jamra, Rami, and Oppermann, Henry

Published
2023
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9. Pharmacodynamics of Eladocagene Exuparvovec and Safety of the SmartFlow Magnetic Resonance-compatible Ventricular Cannula for Administering Eladocagene Exuparvovec in Pediatric Participants (P10-3.005)

Author

Pearl, Phillip, primary, Gilbert, Donald, additional, Ben-Zeev, Bruria, additional, Curry, Daniel, additional, Stone, Scellig, additional, Vestal, Matthew, additional, Sierra, Rafael, additional, Penematsa, Vinay, additional, Wang, Antonia, additional, Golden, Lee, additional, and Hwu, Paul Wuh-Liang, additional

Published
2024
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10. Building Bridges Between the Clinic and the Laboratory: A Meeting Review - Brain Malformations: A Roadmap for Future Research.

Author

Sapir, Tamar, Barakat, Tahsin Stefan, Paredes, Mercedes F, Lerman-Sagie, Tally, Aronica, Eleonora, Klonowski, Wlodzimierz, Nguyen, Laurent, Ben Zeev, Bruria, Bahi-Buisson, Nadia, Leventer, Richard, Rachmian, Noa, and Reiner, Orly

Subjects
brain development, brain malformations, brain organoids, brain plasticity, mTOR, mouse models, neuronal migration, neuronal progenitors, Biochemistry and Cell Biology, Neurosciences
Abstract

In the middle of March 2019, a group of scientists and clinicians (as well as those who wear both hats) gathered in the green campus of the Weizmann Institute of Science to share recent scientific findings, to establish collaborations, and to discuss future directions for better diagnosis, etiology modeling and treatment of brain malformations. One hundred fifty scientists from twenty-two countries took part in this meeting. Thirty-eight talks were presented and as many as twenty-five posters were displayed. This review is aimed at presenting some of the highlights that the audience was exposed to during the three-day meeting.

Published
2019

11. Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

Author

Belousova, Elena, Belyaev, Oleg, Ben-Zeev, Bruria, Brunklaus, Andreas, Ciliberto, Michael A., Darra, Francesca, Davis, Ronald, De Giorgis, Valentina, Doronina, Olga, Fahey, Michael, Guerrini, Renzo, Heydemann, Peter, Khaletskaya, Olga, Lisewski, Pawel, Marsh, Eric D., Moosa, Ahsan N., Perry, Scott, Philip, Sunny, Rajaraman, Rajsekar R., Renfroe, Ben, Saneto, Russell P., Scheffer, Ingrid E., Sogawa, Yoshimi, Suter, Bernhardt, Sweney, Matthew T., Tarquinio, Daniel, Veggiotti, Pierangelo, Wallace, Geoff, Weisenberg, Judy, Wilfong, Angus, Wirrell, Elaine C., Zafar, Muhammad, Zolnowska, Marta, Knight, Elia M Pestana, Amin, Sam, Bahi-Buisson, Nadia, Benke, Tim A, Cross, J Helen, Demarest, Scott T, Olson, Heather E, Specchio, Nicola, Fleming, Thomas R, Aimetti, Alex A, Gasior, Maciej, and Devinsky, Orrin

Published
2022
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14. Development of an International Standard Set of Outcomes and Measurement Methods for Routine Practice for Infants, Children, and Adolescents with Epilepsy: The International Consortium for Health Outcomes Measurement Consensus Recommendations.

Author

Mitchell, James W., Sossi, Frieda, Miller, Isabel, Jaber, Paula Blancarte, Das‐Gupta, Zofia, Fialho, Luz Sousa, Amos, Action, Austin, Joan K., Badzik, Scott, Baker, Gus, Ben Zeev, Bruria, Bolton, Jeffrey, Chaplin, John E., Cross, J. Helen, Chan, Derrick, Gericke, Christian A., Husain, Aatif M., Lally, Lorraine, Mbugua, Sharon, and Megan, Cassidy

Subjects
HEALTH outcome assessment, CHILDREN with epilepsy, EPILEPSY, CHILDHOOD epilepsy, LANGUAGE acquisition, ADOLESCENCE, CHILDREN with developmental disabilities
Abstract

At present, there is no internationally accepted set of core outcomes or measurement methods for epilepsy clinical practice. The International Consortium for Health Outcomes Measurement (ICHOM) convened an international working group of experts in epilepsy, people with epilepsy, and their representatives to develop minimum sets of standardized outcomes and outcome measurement methods for clinical practice. Using modified Delphi consensus methods with consecutive rounds of online voting over 12 months, a core set of outcomes and corresponding measurement tool packages to capture the outcomes were identified for infants, children, and adolescents with epilepsy. Consensus methods identified 20 core outcomes. In addition to the outcomes identified for the ICHOM Epilepsy adult standard set, behavioral, motor, and cognitive/language development outcomes were voted as essential for all infants and children with epilepsy. The proposed set of outcomes and measurement methods will facilitate the implementation of the use of patient‐centered outcomes in daily practice. [ABSTRACT FROM AUTHOR]

Published
2024
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17. De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

Author

Myers, Candace T, Stong, Nicholas, Mountier, Emily I, Helbig, Katherine L, Freytag, Saskia, Sullivan, Joseph E, Ben Zeev, Bruria, Nissenkorn, Andreea, Tzadok, Michal, Heimer, Gali, Shinde, Deepali N, Rezazadeh, Arezoo, Regan, Brigid M, Oliver, Karen L, Ernst, Michelle E, Lippa, Natalie C, Mulhern, Maureen S, Ren, Zhong, Poduri, Annapurna, Andrade, Danielle M, Bird, Lynne M, Bahlo, Melanie, Berkovic, Samuel F, Lowenstein, Daniel H, Scheffer, Ingrid E, Sadleir, Lynette G, Goldstein, David B, Mefford, Heather C, and Heinzen, Erin L

Subjects
Humans, Epilepsy, Spasms, Infantile, Calcineurin, Severity of Illness Index, Cohort Studies, Sequence Analysis, DNA, Synaptic Transmission, Mutation, Adolescent, Adult, Child, Child, Preschool, Infant, Infant, Newborn, Female, Male, Young Adult, Exome, Lennox Gastaut Syndrome, Neurodevelopmental Disorders, PPP3CA, calcineurin, de novo mutation, developmental and epileptic encephalopathy, epilepsy, Brain Disorders, Neurodegenerative, Pediatric, Genetics, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Neurological, Good Health and Well Being, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Exome sequencing has readily enabled the discovery of the genetic mutations responsible for a wide range of diseases. This success has been particularly remarkable in the severe epilepsies and other neurodevelopmental diseases for which rare, often de novo, mutations play a significant role in disease risk. Despite significant progress, the high genetic heterogeneity of these disorders often requires large sample sizes to identify a critical mass of individuals with disease-causing mutations in a single gene. By pooling genetic findings across multiple studies, we have identified six individuals with severe developmental delay (6/6), refractory seizures (5/6), and similar dysmorphic features (3/6), each harboring a de novo mutation in PPP3CA. PPP3CA encodes the alpha isoform of a subunit of calcineurin. Calcineurin encodes a calcium- and calmodulin-dependent serine/threonine protein phosphatase that plays a role in a wide range of biological processes, including being a key regulator of synaptic vesicle recycling at nerve terminals. Five individuals with de novo PPP3CA mutations were identified among 4,760 trio probands with neurodevelopmental diseases; this is highly unlikely to occur by chance (p = 1.2 × 10-8) given the size and mutability of the gene. Additionally, a sixth individual with a de novo mutation in PPP3CA was connected to this study through GeneMatcher. Based on these findings, we securely implicate PPP3CA in early-onset refractory epilepsy and further support the emerging role for synaptic dysregulation in epilepsy.

Published
2017

19. Clinical phenotypes of infantile onset CACNA1A-related disorder

Author

Gur-Hartman, Tamar, Berkowitz, Oren, Yosovich, Keren, Roubertie, Agathe, Zanni, Ginevra, Macaya, Alfons, Heimer, Gali, Dueñas, Belén Pérez, Sival, Deborah A., Pode-Shakked, Ben, López-Laso, Eduardo, Humbertclaude, Véronique, Riant, Florence, Bosco, Luca, Cayron, Lital Bachar, Nissenkorn, Andreea, Nicita, Francesco, Bertini, Enrico, Hassin, Sharon, Ben Zeev, Bruria, Zerem, Ayelet, Libzon, Stephanie, Lev, Dorit, Linder, Ilan, Lerman-Sagie, Tally, and Blumkin, Lubov

Published
2021
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21. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Author

Stamberger, Hannah, Hammer, Trine B., Gardella, Elena, Vlaskamp, Danique R. M., Bertelsen, Birgitte, Mandelstam, Simone, de Lange, Iris, Zhang, Jing, Myers, Candace T., Fenger, Christina, Afawi, Zaid, Almanza Fuerte, Edith P., Andrade, Danielle M., Balcik, Yunus, Ben Zeev, Bruria, Bennett, Mark F., Berkovic, Samuel F., Isidor, Bertrand, Bouman, Arjan, Brilstra, Eva, Busk, Øyvind L., Cairns, Anita, Caumes, Roseline, Chatron, Nicolas, Dale, Russell C., de Geus, Christa, Edery, Patrick, Gill, Deepak, Granild-Jensen, Jacob Bie, Gunderson, Lauren, Gunning, Boudewijn, Heimer, Gali, Helle, Johan R., Hildebrand, Michael S., Hollingsworth, Georgie, Kharytonov, Volodymyr, Klee, Eric W., Koeleman, Bobby P. C., Koolen, David A., Korff, Christian, Küry, Sébastien, Lesca, Gaetan, Lev, Dorit, Leventer, Richard J., Mackay, Mark T., Macke, Erica L., McEntagart, Meriel, Mohammad, Shekeeb S., Monin, Pauline, Montomoli, Martino, Morava, Eva, Moutton, Sebastien, Muir, Alison M., Parrini, Elena, Procopis, Peter, Ranza, Emmanuelle, Reed, Laura, Reif, Philipp S., Rosenow, Felix, Rossi, Massimiliano, Sadleir, Lynette G., Sadoway, Tara, Schelhaas, Helenius J., Schneider, Amy L., Shah, Krati, Shalev, Ruth, Sisodiya, Sanjay M., Smol, Thomas, Stumpel, Connie T. R. M., Stuurman, Kyra, Symonds, Joseph D., Mau-Them, Frederic Tran, Verbeek, Nienke, Verhoeven, Judith S., Wallace, Geoffrey, Yosovich, Keren, Zarate, Yuri A., Zerem, Ayelet, Zuberi, Sameer M., Guerrini, Renzo, Mefford, Heather C., Patel, Chirag, Zhang, Yue-Hua, Møller, Rikke S., and Scheffer, Ingrid E.

Published
2021
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22. Short Stature and Distinct Growth Characteristics in Angelman Syndrome.

Author

Gruber, Noah, Daka, Ayman, Lapidot, Noy, Modan-Moses, Dalit, Pinhas-Hamiel, Orit, Ben Zeev, Bruria, and Heimer, Gali

Subjects
ANGELMAN syndrome, SLEEP, MOTOR ability, SPEECH, FAMILY history (Medicine)
Abstract

Introduction: Angelman syndrome (AS) is a rare, genetic, neurodevelopmental disorder characterized by severe impairments in speech, cognition, and motor skills accompanied by unique behaviors, distinct facial features, and high prevalence of epilepsy and sleep problems. Despite some reports of short stature among AS patients, this feature is not included in the clinical criteria defined in 2005. We investigated growth patterns among AS patients with respect to mutation type, growth periods, family history, and endocrine abnormalities. Methods: Data were collected from patients' medical files in AS National Clinic. Mutation subtypes were divided to deletion and non-deletion. Four growth periods were defined: preschool, childhood, peak height velocity, and final height. Results: The cohort included 88 individuals (46 males), with 54 (61.4%) carrying deletion subtype. A median of 3 observations per individual produced 280 data points. Final height SDS was significantly lower compared to general population (−1.23 ± 1.26, p < 0.001), and in deletion group versus non-deletion (−1.67 ± 1.3 vs. −0.65 ± 0.96, p = 0.03). Final height SDS was significantly lower compared to height SDS in preschool period (−1.32 vs. −0.47, p = 0.007). Patient's final height SDS was significantly lower than the parents' (∆final-height SDS = 0.94 ± 0.99, p = 0.002). IGF1-SDS was significantly decreased compared to general population (−0.55 ± 1.61, p = 0.04), with lower values among deletion group (−0.70 ± 1.44, p = 0.01). Conclusions: AS patients demonstrate specific growth pattern with deceleration during childhood and adolescence, resulting in significantly decreased final height compared to normal population, and even lower among deletion subgroup, which could be attributed to reduced IGF1 levels. We propose adding short stature to the clinical criteria and developing adjusted growth curves for AS population. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Epilepsy Course and Developmental Trajectories in STXBP1-DEE

Author

Balagura, Ganna, Xian, Julie, Riva, Antonella, Marchese, Francesca, Ben Zeev, Bruria, Rios, Loreto, Sirsi, Deepa, Accorsi, Patrizia, Amadori, Elisabetta, Astrea, Guja, Baldassari, Simona, Beccaria, Francesca, Boni, Antonella, Budetta, Mauro, Cantalupo, Gaetano, Capovilla, Giuseppe, Cesaroni, Elisabetta, Chiesa, Valentina, Coppola, Antonietta, Dilena, Robertino, Faggioli, Raffaella, Ferrari, Annarita, Fiorini, Elena, Madia, Francesca, Gennaro, Elena, Giacomini, Thea, Giordano, Lucio, Iacomino, Michele, Lattanzi, Simona, Marini, Carla, Mancardi, Maria Margherita, Mastrangelo, Massimo, Messana, Tullio, Minetti, Carlo, Nobili, Lino, Papa, Amanda, Parmeggiani, Antonia, Pisano, Tiziana, Russo, Angelo, Salpietro, Vincenzo, Savasta, Salvatore, Scala, Marcello, Accogli, Andrea, Scelsa, Barbara, Scudieri, Paolo, Spalice, Alberto, Specchio, Nicola, Trivisano, Marina, Tzadok, Michal, Valeriani, Massimiliano, Vari, Maria Stella, Verrotti, Alberto, Vigevano, Federico, Vignoli, Aglaia, Toonen, Ruud, Zara, Federico, Helbig, Ingo, and Striano, Pasquale

Published
2022
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26. A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies

Author

Pode-Shakked, Ben, Barel, Ortal, Singer, Amihood, Regev, Miriam, Poran, Hana, Eliyahu, Aviva, Finezilber, Yael, Segev, Meirav, Berkenstadt, Michal, Yonath, Hagith, Reznik-Wolf, Haike, Gazit, Yael, Chorin, Odelia, Heimer, Gali, Gabis, Lidia V., Tzadok, Michal, Nissenkorn, Andreea, Bar-Yosef, Omer, Zohar-Dayan, Efrat, Ben-Zeev, Bruria, Mor, Nofar, Kol, Nitzan, Nayshool, Omri, Shimshoviz, Noam, Bar-Joseph, Ifat, Marek-Yagel, Dina, Javasky, Elisheva, Einy, Reviva, Gal, Moran, Grinshpun-Cohen, Julia, Shohat, Mordechai, Dominissini, Dan, Raas-Rothschild, Annick, Rechavi, Gideon, Pras, Elon, and Greenbaum, Lior

Published
2021
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30. PRDM16 co-operates with LHX2 to shape the human brain

Author

Suresh, Varun, primary, Bhattacharya, Bidisha, additional, Tshuva, Rami Yair, additional, Danan Gotthold, Miri, additional, Olender, Tsviya, additional, Bose, Mahima, additional, Ben Zeev, Bruria, additional, Smith, Richard Scott, additional, Pradhan, Saurabh J., additional, Tole, Shubha, additional, Galande, Sanjeev, additional, Harwell, Corey, additional, Baizabal, Manuel, additional, and Reiner, Orly, additional

Published
2023
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31. Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

Author

Paul, Maimuna S., primary, Duncan, Anna R., additional, Genetti, Casie A., additional, Pan, Hongling, additional, Jackson, Adam, additional, Grant, Patricia E., additional, Shi, Jiahai, additional, Pinelli, Michele, additional, Brunetti-Pierri, Nicola, additional, Garza-Flores, Alexandra, additional, Shahani, Dave, additional, Saneto, Russell P., additional, Zampino, Giuseppe, additional, Leoni, Chiara, additional, Agolini, Emanuele, additional, Novelli, Antonio, additional, Blümlein Tobias B. Haack, Ulrike, additional, Heinritz, Wolfram, additional, Matzker, Eva, additional, Alhaddad, Bader, additional, Jamra, Rami Abou, additional, Bartolomaeus, Tobias, additional, AlHamdan, Saber, additional, Carapito, Raphael, additional, Isidor, Bertrand, additional, Bahram, Seiamak, additional, Ritter, Alyssa, additional, Izumi, Kosuke, additional, Shakked, Ben Pode, additional, Barel, Ortal, additional, Ben Zeev, Bruria, additional, Begtrup, Amber, additional, Carere, Deanna Alexis, additional, Mullegama, Sureni V., additional, Palculict, Timothy Blake, additional, Calame, Daniel G., additional, Schwan, Katharina, additional, Aycinena, Alicia R.P., additional, Traberg, Rasa, additional, Douzgou, Sofia, additional, Pirt, Harrison, additional, Ismayilova, Naila, additional, Banka, Siddharth, additional, Chao, Hsiao-Tuan, additional, and Agrawal, Pankaj B., additional

Published
2023
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33. Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders

Author

Kagan, Maayan, primary, Semo-Oz, Rotem, additional, Ben Moshe, Yishay, additional, Atias-Varon, Danit, additional, Tirosh, Irit, additional, Stern-Zimmer, Michal, additional, Eliyahu, Aviva, additional, Raas-Rothschild, Annick, additional, Bivas, Maayan, additional, Shlomovitz, Omer, additional, Chorin, Odelia, additional, Rock, Rachel, additional, Tzadok, Michal, additional, Ben-Zeev, Bruria, additional, Heimer, Gali, additional, Bolkier, Yoav, additional, Gruber, Noah, additional, Dagan, Adi, additional, Bar Aluma, Bat El, additional, Pessach, Itai M., additional, Rechavi, Gideon, additional, Barel, Ortal, additional, Pode-Shakked, Ben, additional, Anikster, Yair, additional, and Vivante, Asaf, additional

Published
2023
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36. Vici syndrome in Israel: Clinical and molecular insights

Author

Chorin, Odelia, primary, Hirsch, Yoel, additional, Rock, Rachel, additional, Salzer Sheelo, Liat, additional, Goldberg, Yael, additional, Mandel, Hanna, additional, Hershkovitz, Tova, additional, Fleischer, Nicole, additional, Greenbaum, Lior, additional, Katz, Uriel, additional, Barel, Ortal, additional, Hamed, Nasrin, additional, Ben-Zeev, Bruria, additional, Greenberger, Shoshana, additional, Nasser Samra, Nadra, additional, Stern Zimmer, Michal, additional, Raas-Rothschild, Annick, additional, and Pode-Shakked, Ben, additional

Published
2022
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38. Scoliosis in RETT Syndrome

Author

Menachem, Shay, primary, Hershkovich, Oded, additional, Ackshota, Nissim, additional, Friedlander, Alon, additional, Givon, Uri, additional, Ben-Zeev, Bruria, additional, and Caspi, Israel, additional

Published
2022
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39. A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency

Author

Malicdan, May Christine V., Vilboux, Thierry, Ben‐Zeev, Bruria, Guo, Jennifer, Eliyahu, Aviva, Pode‐Shakked, Ben, Dori, Amir, Kakani, Sravan, Chandrasekharappa, Settara C., Ferreira, Carlos R., Shelestovich, Natalia, Marek‐Yagel, Dina, Pri‐Chen, Hadass, Blatt, Ilan, Niederhuber, John E., He, Langping, Toro, Camilo, Taylor, Robert W., Deeken, John, Yardeni, Tal, Wallace, Douglas C., Gahl, William A., and Anikster, Yair

Published
2018
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41. Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

Author

Knight, Elia M Pestana, primary, Amin, Sam, additional, Bahi-Buisson, Nadia, additional, Benke, Tim A, additional, Cross, J Helen, additional, Demarest, Scott T, additional, Olson, Heather E, additional, Specchio, Nicola, additional, Fleming, Thomas R, additional, Aimetti, Alex A, additional, Gasior, Maciej, additional, Devinsky, Orrin, additional, Belousova, Elena, additional, Belyaev, Oleg, additional, Ben-Zeev, Bruria, additional, Brunklaus, Andreas, additional, Ciliberto, Michael A., additional, Darra, Francesca, additional, Davis, Ronald, additional, De Giorgis, Valentina, additional, Doronina, Olga, additional, Fahey, Michael, additional, Guerrini, Renzo, additional, Heydemann, Peter, additional, Khaletskaya, Olga, additional, Lisewski, Pawel, additional, Marsh, Eric D., additional, Moosa, Ahsan N., additional, Perry, Scott, additional, Philip, Sunny, additional, Rajaraman, Rajsekar R., additional, Renfroe, Ben, additional, Saneto, Russell P., additional, Scheffer, Ingrid E., additional, Sogawa, Yoshimi, additional, Suter, Bernhardt, additional, Sweney, Matthew T., additional, Tarquinio, Daniel, additional, Veggiotti, Pierangelo, additional, Wallace, Geoff, additional, Weisenberg, Judy, additional, Wilfong, Angus, additional, Wirrell, Elaine C., additional, Zafar, Muhammad, additional, and Zolnowska, Marta, additional

Published
2022
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42. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

Author

Stephenson, Sarah E.M., primary, Costain, Gregory, additional, Blok, Laura E.R., additional, Silk, Michael A., additional, Nguyen, Thanh Binh, additional, Dong, Xiaomin, additional, Alhuzaimi, Dana E., additional, Dowling, James J., additional, Walker, Susan, additional, Amburgey, Kimberly, additional, Hayeems, Robin Z., additional, Rodan, Lance H., additional, Schwartz, Marc A., additional, Picker, Jonathan, additional, Lynch, Sally A., additional, Gupta, Aditi, additional, Rasmussen, Kristen J., additional, Schimmenti, Lisa A., additional, Klee, Eric W., additional, Niu, Zhiyv, additional, Agre, Katherine E., additional, Chilton, Ilana, additional, Chung, Wendy K., additional, Revah-Politi, Anya, additional, Au, P.Y. Billie, additional, Griffith, Christopher, additional, Racobaldo, Melissa, additional, Raas-Rothschild, Annick, additional, Ben Zeev, Bruria, additional, Barel, Ortal, additional, Moutton, Sebastien, additional, Morice-Picard, Fanny, additional, Carmignac, Virginie, additional, Cornaton, Jenny, additional, Marle, Nathalie, additional, Devinsky, Orrin, additional, Stimach, Chandler, additional, Wechsler, Stephanie Burns, additional, Hainline, Bryan E., additional, Sapp, Katie, additional, Willems, Marjolaine, additional, Bruel, Ange-line, additional, Dias, Kerith-Rae, additional, Evans, Carey-Anne, additional, Roscioli, Tony, additional, Sachdev, Rani, additional, Temple, Suzanna E.L., additional, Zhu, Ying, additional, Baker, Joshua J., additional, Scheffer, Ingrid E., additional, Gardiner, Fiona J., additional, Schneider, Amy L., additional, Muir, Alison M., additional, Mefford, Heather C., additional, Crunk, Amy, additional, Heise, Elizabeth M., additional, Millan, Francisca, additional, Monaghan, Kristin G., additional, Person, Richard, additional, Rhodes, Lindsay, additional, Richards, Sarah, additional, Wentzensen, Ingrid M., additional, Cogné, Benjamin, additional, Isidor, Bertrand, additional, Nizon, Mathilde, additional, Vincent, Marie, additional, Besnard, Thomas, additional, Piton, Amelie, additional, Marcelis, Carlo, additional, Kato, Kohji, additional, Koyama, Norihisa, additional, Ogi, Tomoo, additional, Goh, Elaine Suk-Ying, additional, Richmond, Christopher, additional, Amor, David J., additional, Boyce, Jessica O., additional, Morgan, Angela T., additional, Hildebrand, Michael S., additional, Kaspi, Antony, additional, Bahlo, Melanie, additional, Friðriksdóttir, Rún, additional, Katrínardóttir, Hildigunnur, additional, Sulem, Patrick, additional, Stefánsson, Kári, additional, Björnsson, Hans Tómas, additional, Mandelstam, Simone, additional, Morleo, Manuela, additional, Mariani, Milena, additional, Scala, Marcello, additional, Accogli, Andrea, additional, Torella, Annalaura, additional, Capra, Valeria, additional, Wallis, Mathew, additional, Jansen, Sandra, additional, Waisfisz, Quinten, additional, de Haan, Hugoline, additional, Sadedin, Simon, additional, Lim, Sze Chern, additional, White, Susan M., additional, Ascher, David B., additional, Schenck, Annette, additional, Lockhart, Paul J., additional, Christodoulou, John, additional, and Tan, Tiong Yang, additional

Published
2022
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44. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Epilepsy Patients With KCNC2 Pathogenic Variants

Author

Niklas, Schwarz, Simone, Seiffert, Msc, Manuela, Pendziwiat, Annika Verena Rademacher, Tobias, Br¨unger, Phd, Hedrich, Ulrike B. S., Augustijn, Paul B., Hartmut, Baier, Allan, Bayat, Francesca, Bisulli, Phd, Md, Buono, Russell J., Ben Zeev Bruria, Doyle, Michael G., Guerrini, Renzo, Gali, Heimer, Iacomino, Michele, Hugh, Kearney, Karl Martin Klein, Ioanna, Kousiappa, Kunz, Wolfram S., Holger, Lerche, Laura, Licchetta, Ebba, Lohmann, Raffaella, Minardi, Marie, Mcdonald, Sarah, Montgomery, Lejla, Mulahasanovic, Renske, Oegema, Barel, Ortal, Papacostas, Savvas S., Francesca, Ragona, Tiziana, Granata, Reif, Phillip S., Felix, Rosenow, Annick, Rothschild, Scudieri, Paolo, Striano, Pasquale, Paolo, Tinuper, Tanteles, George A., Annalisa, Vetro, Felix, Zahnert, Goldberg, Ethan M., Zara, Federico, Dennis, Lal, Patrick, May, Hiltrud, Muhle, Ingo, Helbig, and and Yvonne Weber

Subjects
Neurology (clinical)
Abstract

Background:KCNC2 encodes Kv3.2, a member of the Shaw-related (Kv3) voltage-gated potassium channel subfamily, which is important for sustained high-frequency firing and optimized energy efficiency of action potentials in the brain. The objective of this study was to analyse the clinical phenotype, genetic background, and biophysical function of disease-associated Kv3.2 variants.Methods:Individuals with KCNC2 variants detected by exome sequencing were selected for clinical, further genetic, and functional analysis. Cases were referred through clinical and research collaborations. Selected de novo variants were examined electrophysiologically in Xenopus laevis oocytes.Results:We identified novel KCNC2 variants in 18 patients with various forms of epilepsy including genetic generalized epilepsy (GGE), developmental and epileptic encephalopathy (DEE) including early-onset absence epilepsy (EOAE), focal epilepsy (FE), and myoclonic-atonic epilepsy (MAE). 10/18 variants were de novo and 8/18 variants were classified as modifying variants. 8 drug responsive cases became seizure-free using valproic acid as monotherapy or in combination including severe DEE cases. Functional analysis of four variants demonstrated gain-of-function in three severely affected DEE cases and loss-of-function in one case with a milder phenotype (GGE) as the underlying pathomechanisms.Conclusion:These findings implicate KCNC2 as a novel causative gene for epilepsy and emphasize the critical role of KV3.2 in the regulation of brain excitability.

Published
2022

45. Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy

Author

Barel, Ortal, Christine V. Malicdan, May, Ben-Zeev, Bruria, Kandel, Judith, Pri-Chen, Hadass, Stephen, Joshi, Castro, Inês G., Metz, Jeremy, Atawa, Osama, Moshkovitz, Sharon, Ganelin, Eti, Barshack, Iris, Polak-Charcon, Sylvie, Nass, Dvora, Marek-Yagel, Dina, Amariglio, Ninette, Shalva, Nechama, Vilboux, Thierry, Ferreira, Carlos, Pode-Shakked, Ben, Heimer, Gali, Hoffmann, Chen, Yardeni, Tal, Nissenkorn, Andreea, Avivi, Camila, Eyal, Eran, Kol, Nitzan, Glick Saar, Efrat, Wallace, Douglas C., Gahl, William A., Rechavi, Gideon, Schrader, Michael, Eckmann, David M., and Anikster, Yair

Published
2017
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46. Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H

Author

Mulkey, Sarah B., Ben‐Zeev, Bruria, Nicolai, Joost, Carroll, John L., Grønborg, Sabine, Jiang, Yong‐hui, Joshi, Nishtha, Kelly, Megan, Koolen, David. A., Mikati, Mohamad A., Park, Kristen, Pearl, Phillip L., Scheffer, Ingrid E., Spillmann, Rebecca C., Taglialatela, Maurizio, Vieker, Silvia, Weckhuysen, Sarah, Cooper, Edward C., and Cilio, Maria Roberta

Published
2017
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48. Costeff syndrome: clinical features and natural history

Author

Yahalom, Gilad, Anikster, Yair, Huna-Baron, Ruth, Hoffmann, Chen, Blumkin, Lubov, Lev, Dorit, Tsabari, Rakefet, Nitsan, Zeev, Lerman, Sheera F., Ben-Zeev, Bruria, Pode-Shakked, Ben, Sofer, Shira, Schweiger, Avraham, Lerman-Sagie, Tally, and Hassin-Baer, Sharon

Published
2014
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