Perampanel as precision therapy in rare genetic epilepsies von Nissenkorn, Andreea, Kluger, Gerhard, Schubert‐Bast, Susanne, Bayat, Allan, Bobylova, Marya, Bonanni, Paolo, Ceulemans, Berten, Coppola, Antonietta, Di Bonaventura, Carlo, Feucht, Martha, Fuchs, Anne, Gröppel, Gudrun, Heimer, Gali, Herdt, Brigitte, Kulikova, Sviatlana, Mukhin, Konstantin, Nicassio, Stefania, Orsini, Alessandro, Panagiotou, Maria, Pringsheim, Milka, Puest, Burkhard, Pylaeva, Olga, Ramantani, Georgia, Tsekoura, Maria, Ricciardelli, Paolo, Lerman Sagie, Tally, Stark, Brigit, Striano, Pasquale, Baalen, Andreas, De Wachter, Matthias, Cerulli Irelli, Emanuele, Cuccurullo, Claudia, Stülpnagel, Celina, Russo, Angelo

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De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy von Nakashima, Mitsuko, Kato, Mitsuhiro, Aoto, Kazushi, Shiina, Masaaki, Belal, Hazrat, Mukaida, Souichi, Kumada, Satoko, Sato, Atsushi, Zerem, Ayelet, Lerman‐Sagie, Tally, Lev, Dorit, Leong, Huey Yin, Tsurusaki, Yoshinori, Mizuguchi, Takeshi, Miyatake, Satoko, Miyake, Noriko, Ogata, Kazuhiro, Saitsu, Hirotomo, Matsumoto, Naomichi

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Diagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry von Peero, Einav Kadour, Kugelman, Nir, Gindes, Liat, Shariv, Avi, Lev, Dorit, Tamarkin, Mordechai, Haddad, Leila, Bakry, Hassan, Weizman, Boris, Shapiro, Israel, Arad, Ayala, Kidron, Dvora, Lerman‐Sagie, Tally, Leibovitz, Zvi

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Early onset epileptic encephalopathy caused by de novo SCN8A mutations von 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

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Rare copy number variants are an important cause of epileptic encephalopathies von 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.

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Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design von Tolonen, Jussi Pekka, Parolin Schnekenberg, Ricardo, McGowan, Simon, Sims, David, McEntagart, Meriel, Elmslie, Frances, Shears, Debbie, Stewart, Helen, Tofaris, George K., Dabir, Tabib, Morrison, Patrick J., Johnson, Diana, Hadjivassiliou, Marios, Ellard, Sian, Shaw‐Smith, Charles, Znaczko, Anna, Dixit, Abhijit, Suri, Mohnish, Sarkar, Ajoy, Harrison, Rachel E., Jones, Gabriela, Houlden, Henry, Ceravolo, Giorgia, Jarvis, Joanna, Williams, Jonathan, Shanks, Morag E., Clouston, Penny, Rankin, Julia, Blumkin, Lubov, Lerman‐Sagie, Tally, Ponger, Penina, Raskin, Salmo, Granath, Katariina, Uusimaa, Johanna, Conti, Hector, McCann, Emma, Joss, Shelagh, Blakes, Alexander J.M., Metcalfe, Kay, Kingston, Helen, Bertoli, Marta, Kneen, Rachel, Lynch, Sally Ann, Martínez Albaladejo, Inmaculada, Moore, Austen Peter, Jones, Wendy D., Becker, Esther B.E., Németh, Andrea H.

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Cerebellar hemorrhage with germinal matrix intraventricular hemorrhage: Continuum from fetal to neonatal life von Cohen, Rony, Lerman-Sagie, Tally

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The fetal cerebellum. Pitfalls in diagnosis and management von Malinger, Gustavo, Lev, Dorit, Lerman-Sagie, Tally

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The molecular and phenotypic spectrum of IQSEC2‐related epilepsy von Zerem, Ayelet, Haginoya, Kazuhiro, Lev, Dorit, Blumkin, Lubov, Kivity, Sara, Linder, Ilan, Shoubridge, Cheryl, Palmer, Elizabeth Emma, Field, Michael, Boyle, Jackie, Chitayat, David, Gaillard, William D., Kossoff, Eric H., Willems, Marjolaine, Geneviève, David, Tran‐Mau‐Them, Frederic, Epstein, Orna, Heyman, Eli, Dugan, Sarah, Masurel‐Paulet, Alice, Piton, Ame'lie, Kleefstra, Tjitske, Pfundt, Rolph, Sato, Ryo, Tzschach, Andreas, Matsumoto, Naomichi, Saitsu, Hirotomo, Leshinsky‐Silver, Esther, Lerman‐Sagie, Tally

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Frequency of CNKSR2 mutation in the X‐linked epilepsy‐aphasia spectrum von Damiano, John A., Burgess, Rosemary, Kivity, Sara, Lerman‐Sagie, Tally, Afawi, Zaid, Scheffer, Ingrid E., Berkovic, Samuel F., Hildebrand, Michael S.

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Refining the phenotype of the THG1L (p.Val55Ala mutation)‐related mitochondrial autosomal recessive congenital cerebellar ataxia von Walker, Melissa A., Lerman‐Sagie, Tally, Swoboda, Kathryn, Lev, Dorit, Blumkin, Lubov

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Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations von Birnbaum, Roee, Yosha‐Orpaz, Naama, Yanoov‐Sharav, Miri, Kidron, Dvora, Gur, Hila, Yosovich, Keren, Lerman‐Sagie, Tally, Malinger, Gustavo, Lev, Dorit

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Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abn... von Mirzaa, Ghayda M., Conway, Robert L., Gripp, Karen W., Lerman-Sagie, Tally, Siegel, Dawn H., deVries, Linda S., Lev, Dorit, Kramer, Nancy, Hopkins, Elizabeth, Graham Jr, John M., Dobyns, William B.

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Agenesis of the septum pellucidum: Prenatal diagnosis and outcome von Borkowski‐Tillman, Tamar, Garcia‐Rodriguez, Raquel, Viñals, Fernando, Branco, Miguel, Kradjen‐Haratz, Karina, Ben‐Sira, Liat, Lerman‐Sagie, Tally, Malinger, Gustavo

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Brain white matter abnormalities associated with copy number variants von Vigdorovich, Nitzan, Ben‐Sira, Liat, Blumkin, Lubov, Precel, Ronit, Nezer, Ifat, Yosovich, Keren, Cross, Zachary, Vanderver, Adeline, Lev, Dorit, Lerman‐Sagie, Tally, Zerem, Ayelet

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Periventricular pseudocysts of noninfectious origin: Prenatal associated findings and prognostic factors von Levy, Michal, Lev, Dorit, Leibovitz, Zvi, Kashanian, Alon, Gindes, Liat, Tamarkin, Mordechai, Shalev, Josef, Sira, Liat B., Mizrachi, Yossi, Borovich, Adi, Birnbaum, Roee, Lerman‐Sagie, Tally, Malinger, Gustavo, Haratz, Karina K.

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Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia von Daas, Suha, Abu Salah, Nasser, Anikster, Yair, Barel, Ortal, Damseh, Nadirah S., Dumin, Elena, Fattal‐Valevski, Aviva, Falik‐Zaccai, Tzipora C., Habib, Clair, Josefsberg, Sagi, Korman, Stanley H., Kneller, Katya, Landau, Yuval, Lerman‐Sagie, Tally, Mandel, Hanna, Manor, Yehoshua, Moady Abdalla, Tameemi, Rock, Rachel, Rostami, Nira, Saada, Ann, Saraf‐Levy, Talya, Shaul Lotan, Nava, Spiegel, Ronen, Staretz‐Chacham, Orna, Tal, Galit, Ulanovsky, Igor, Vaisid, Taly, Wilnai, Yael, Almashanu, Shlomo

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Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy von 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

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Lacosamide for SCN2A‐related intractable neonatal and infantile seizures von Hadar, Flor‐Hirsch, Eli, Heyman, Ayelet, Livneh, Orit, Reish, Nathan, Watemberg, Ita, Litmanovits, Anat, Ben Sason Lilli, Dorit, Lev, Tally, Lerman Sagie, Haim, Bassan

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The role of orotic acid measurement in routine newborn screening for urea cycle disorders von Staretz‐Chacham, Orna, Daas, Suha, Ulanovsky, Igor, Blau, Ayala, Rostami, Nira, Saraf‐Levy, Talya, Abu Salah, Nasser, Anikster, Yair, Banne, Ehud, Dar, Dalit, Dumin, Elena, Fattal‐Valevski, Aviva, Falik‐Zaccai, Tzipora, Hershkovitz, Eli, Josefsberg, Sagi, Khammash, Hatem, Keidar, Rimona, Korman, Stanley H., Landau, Yuval, Lerman‐Sagie, Tally, Mandel, Dror, Mandel, Hanna, Marom, Ronella, Morag, Iris, Nadir, Erez, Yosha‐Orpaz, Naama, Pode‐Shakked, Ben, Pras, Elon, Reznik‐Wolf, Haike, Saada, Ann, Segel, Reeval, Shaag, Avraham, Shaul Lotan, Nava, Spiegel, Ronen, Tal, Galit, Vaisid, Taly, Zeharia, Avi, Almashanu, Shlomo

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