Personalized treatment with retigabine for pharmacoresistant epilepsy arising from a pathogenic variant in the KCNQ2 selectivity filter
Nissenkorn, Andreea, Kornilov, Polina, Peretz, Asher, Blumkin, Lubov, Heimer, Gali, Ben‐Zeev, Bruria, Attali, Bernard
Published in Epileptic disorders (01.10.2021)
Published in Epileptic disorders (01.10.2021)
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Gene therapy for aromatic L‐amino acid decarboxylase deficiency: Requirements for safe application and knowledge‐generating follow‐up
Roubertie, Agathe, Opladen, Thomas, Brennenstuhl, Heiko, Kuseyri Hübschmann, Oya, Flint, Lisa, Willemsen, Michel A., Leuzzi, Vincenzo, Cazorla, Angels Garcia, Kurian, Manju A., François‐Heude, Marie Céline, Hwu, Paul, Zeev, Bruria Ben, Kiening, Karl, Roujeau, Thomas, Pons, Roser, Pearson, Toni S.
Published in Journal of inherited metabolic disease (01.05.2024)
Published in Journal of inherited metabolic disease (01.05.2024)
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Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain‐of‐function variants R201C and R201H
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., Cilio, Maria Roberta
Published in Epilepsia (Copenhagen) (01.03.2017)
Published in Epilepsia (Copenhagen) (01.03.2017)
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Rare copy number variants are an important cause of epileptic encephalopathies
Mefford, Heather C., Yendle, Simone C., Hsu, Cynthia, Cook, Joseph, Geraghty, Eileen, McMahon, Jacinta M., Eeg-Olofsson, Orvar, Sadleir, Lynette G., Gill, Deepak, Ben-Zeev, Bruria, Lerman-Sagie, Tally, Mackay, Mark, Freeman, Jeremy L., Andermann, Eva, Pelakanos, James T., Andrews, Ian, Wallace, Geoffrey, Eichler, Evan E., Berkovic, Samuel F., Scheffer, Ingrid E.
Published in Annals of neurology (01.12.2011)
Published in Annals of neurology (01.12.2011)
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Splicing Mutations Impairing CDKL5 Expression and Activity Can be Efficiently Rescued by U1snRNA-Based Therapy
Balestra, Dario, Giorgio, Domenico, Bizzotto, Matteo, Fazzari, Maria, Ben Zeev, Bruria, Pinotti, Mirko, Landsberger, Nicoletta, Frasca, Angelisa
Published in International journal of molecular sciences (24.08.2019)
Published in International journal of molecular sciences (24.08.2019)
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Development of an International Standard Set of Outcomes and Measurement Methods for Routine Practice for Adults with Epilepsy: The International Consortium for Health Outcomes Measurement Consensus Recommendations
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, Zeev, Bruria Ben, Bolton, Jeffrey, Chaplin, John E., Cross, J. Helen, Chan, Derrick, Gericke, Christian A., Husain, Aatif M., Lally, Lorraine, Mbugua, Sharon, Megan, Cassidy, Mesa, Tomás, Nuñez, Lilia, Oertzen, Tim J., Perucca, Emilio, Pullen, Angie, Ronen, Gabriel M., Sajatovic, Martha, Singh, Mamta B., Wilmshurst, Jo M., Wollscheid, Leonie, Berg, Anne T.
Published in Epilepsia (Copenhagen) (01.07.2024)
Published in Epilepsia (Copenhagen) (01.07.2024)
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Journal Article
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
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, Megan, Cassidy, Mesa, Tomás, Nuñez, Lilia, Oertzen, Tim J., Perucca, Emilio, Pullen, Angie, Ronen, Gabriel M., Sajatovic, Martha, Singh, Mamta B., Wilmshurst, Jo M., Wollscheid, Leonie, Berg, Anne T.
Published in Epilepsia (Copenhagen) (01.07.2024)
Published in Epilepsia (Copenhagen) (01.07.2024)
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Journal Article
Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy
Agamy, Orly, Ben Zeev, Bruria, Lev, Dorit, Marcus, Barak, Fine, Dina, Su, Dan, Narkis, Ginat, Ofir, Rivka, Hoffmann, Chen, Leshinsky-Silver, Esther, Flusser, Hagit, Sivan, Sara, Söll, Dieter, Lerman-Sagie, Tally, Birk, Ohad S.
Published in American journal of human genetics (08.10.2010)
Published in American journal of human genetics (08.10.2010)
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Journal Article
Patient selection considerations for AADC deficiency gene therapy
Roubertie, Agathe, Anselm, Irina, Ben‐Zeev, Bruria, Hwu, Wuh‐Liang, Kumar, Ashutosh, Monteleone, Berrin, Muramatsu, Shin‐ichi, Leuzzi, Vincenzo, Ibáñez, Salvador, Stone, Scellig, Pearl, Phillip L.
Published in Annals of the Child Neurology Society (01.03.2024)
Published in Annals of the Child Neurology Society (01.03.2024)
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Expanding the MECP2 network using comparative genomics reveals potential therapeutic targets for Rett syndrome
Unterman, Irene, Bloch, Idit, Cazacu, Simona, Kazimirsky, Gila, Ben-Zeev, Bruria, Berman, Benjamin P, Brodie, Chaya, Tabach, Yuval
Published in eLife (06.08.2021)
Published in eLife (06.08.2021)
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Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome
Guemez‐Gamboa, Alicia, Çağlayan, Ahmet Okay, Stanley, Valentina, Gregor, Anne, Zaki, Maha S., Saleem, Sahar N., Musaev, Damir, McEvoy‐Venneri, Jennifer, Belandres, Denice, Akizu, Naiara, Silhavy, Jennifer L., Schroth, Jana, Rosti, Rasim Ozgur, Copeland, Brett, Lewis, Steven M., Fang, Rebecca, Issa, Mahmoud Y., Per, Huseyin, Gumus, Hakan, Bayram, Ayse Kacar, Kumandas, Sefer, Akgumus, Gozde Tugce, Erson‐Omay, Emine Z., Yasuno, Katsuhito, Bilguvar, Kaya, Heimer, Gali, Pillar, Nir, Shomron, Noam, Weissglas‐Volkov, Daphna, Porat, Yuval, Einhorn, Yaron, Gabriel, Stacey, Ben‐Zeev, Bruria, Gunel, Murat, Gleeson, Joseph G.
Published in Annals of neurology (01.11.2018)
Published in Annals of neurology (01.11.2018)
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Dietary-Induced Ketogenesis: Adults Are Not Children
Porper, Keren, Zach, Leor, Shpatz, Yael, Ben-Zeev, Bruria, Tzadok, Michal, Jan, Elisheva, Talianski, Alisa, Champ, Colin E., Symon, Zvi, Anikster, Yair, Lawrence, Yaacov R.
Published in Nutrients (02.09.2021)
Published in Nutrients (02.09.2021)
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Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy
Kodera, Hirofumi, Kato, Mitsuhiro, Nord, Alex S., Walsh, Tom, Lee, Ming, Yamanaka, Gaku, Tohyama, Jun, Nakamura, Kazuyuki, Nakagawa, Eiji, Ikeda, Tae, Ben‐Zeev, Bruria, Lev, Dorit, Lerman‐Sagie, Tally, Straussberg, Rachel, Tanabe, Saori, Ueda, Kazutoshi, Amamoto, Masano, Ohta, Sayaka, Nonoda, Yutaka, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Miyake, Noriko, Hayasaka, Kiyoshi, King, Mary‐Claire, Matsumoto, Naomichi, Saitsu, Hirotomo
Published in Epilepsia (Copenhagen) (01.07.2013)
Published in Epilepsia (Copenhagen) (01.07.2013)
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Lisdexamfetamine Therapy in Paroxysmal Non‐kinesigenic Dyskinesia Associated with the KCNMA1‐N999S Variant
Keros, Sotirios, Heim, Jennifer, Hakami, Wejdan, Zohar‐Dayan, Efrat, Ben‐Zeev, Bruria, Grinspan, Zach, Kruer, Michael C., Meredith, Andrea L.
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.02.2022)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.02.2022)
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Sensitivity and specificity of seizure-onset zone estimation by ictal magnetoencephalography
Medvedovsky, Mordekhay, Taulu, Samu, Gaily, Eija, Metsähonkala, Eeva-Liisa, Mäkelä, Jyrki P., Ekstein, Dana, Kipervasser, Svetlana, Neufeld, Miri Y., Kramer, Uri, Blomstedt, Göran, Fried, Itzhak, Karppinen, Atte, Veshchev, Igor, Roivainen, Reina, Ben-Zeev, Bruria, Goldberg-Stern, Hadassah, Wilenius, Juha, Paetau, Ritva
Published in Epilepsia (Copenhagen) (01.09.2012)
Published in Epilepsia (Copenhagen) (01.09.2012)
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Using nirmatrelvir/ritonavir in patients with epilepsy: An update from the Israeli chapter of the International League Against Epilepsy
Noyman, Iris, Ekstein, Dana, Fahoum, Firas, Herskovitz, Moshe, Linder, Ilan, Ben Zeev, Bruria, Eyal, Sara
Published in Epilepsia (Copenhagen) (01.05.2022)
Published in Epilepsia (Copenhagen) (01.05.2022)
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Short Stature and Distinct Growth Characteristics in Angelman Syndrome
Gruber, Noah, Daka, Ayman, Lapidot, Noy, Modan-Moses, Dalit, Pinhas-Hamiel, Orit, Ben Zeev, Bruria, Heimer, Gali
Published in Hormone research in paediatrics (01.01.2024)
Published in Hormone research in paediatrics (01.01.2024)
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