Статті в журналах з теми "Developmental and epileptic encephalopathy"
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Scheffer, Ingrid E., and Jianxiang Liao. "Deciphering the concepts behind “Epileptic encephalopathy” and “Developmental and epileptic encephalopathy”." European Journal of Paediatric Neurology 24 (January 2020): 11–14. http://dx.doi.org/10.1016/j.ejpn.2019.12.023.
Повний текст джерелаBerg, Anne T., Sonal Mahida, and Annapurna Poduri. "KCNQ2 ‐DEE: developmental or epileptic encephalopathy?" Annals of Clinical and Translational Neurology 8, no. 3 (February 22, 2021): 666–76. http://dx.doi.org/10.1002/acn3.51316.
Повний текст джерелаWild, Brittani, and Stephen Lewis Nelson. "STXBP1-Related Developmental and Epileptic Encephalopathy." Pediatric Neurology Briefs 33 (December 31, 2019): 6. http://dx.doi.org/10.15844/pedneurbriefs-33-6.
Повний текст джерелаGardella, Elena, Carla Marini, Marina Trivisano, Mark P. Fitzgerald, Michael Alber, Katherine B. Howell, Francesca Darra, et al. "The phenotype of SCN8A developmental and epileptic encephalopathy." Neurology 91, no. 12 (August 31, 2018): e1112-e1124. http://dx.doi.org/10.1212/wnl.0000000000006199.
Повний текст джерелаHung, Kun-Long, Jyh-Feng Lu, Da-Jyun Su, Su-Jin Hsu, and Lee-Chin Wang. "Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy." Children 9, no. 8 (July 23, 2022): 1105. http://dx.doi.org/10.3390/children9081105.
Повний текст джерелаLopez-Santiago, Luis, and Lori L. Isom. "Dravet Syndrome: A Developmental and Epileptic Encephalopathy." Epilepsy Currents 19, no. 1 (January 2019): 51–53. http://dx.doi.org/10.1177/1535759718822038.
Повний текст джерелаBartolini, Emanuele. "Inherited Developmental and Epileptic Encephalopathies." Neurology International 13, no. 4 (November 3, 2021): 555–68. http://dx.doi.org/10.3390/neurolint13040055.
Повний текст джерелаStawicka, Elżbieta, Paulina Górka-Skoczylas, and Dorota Hoffman-Zacharska. "A new look at the clinical and molecular characteristics of SCN1A-related developmental and epileptic encephalopathies." Aktualności Neurologiczne 22, no. 2 (December 7, 2022): 93–98. http://dx.doi.org/10.15557/an.2022.0011.
Повний текст джерелаTakai, Akari, Masamitsu Yamaguchi, Hideki Yoshida, and Tomohiro Chiyonobu. "Investigating Developmental and Epileptic Encephalopathy Using Drosophila melanogaster." International Journal of Molecular Sciences 21, no. 17 (September 3, 2020): 6442. http://dx.doi.org/10.3390/ijms21176442.
Повний текст джерелаJohannesen, Katrine M., Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P. W. Rouhl, Margot Reijnders, Sandra Whalen, et al. "PURA-Related Developmental and Epileptic Encephalopathy." Neurology Genetics 7, no. 6 (November 15, 2021): e613. http://dx.doi.org/10.1212/nxg.0000000000000613.
Повний текст джерелаLewis, Ariane, and Steven Galetta. "Editors' note: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy." Neurology 94, no. 8 (February 24, 2020): 368.1–368. http://dx.doi.org/10.1212/wnl.0000000000009005.
Повний текст джерелаWolf, Peter, Celina von Stülpnagel, Till Hartlieb, Rikke S. Møller, and Gerhard J. Kluger. "Reader response: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy." Neurology 94, no. 8 (February 24, 2020): 368.2–369. http://dx.doi.org/10.1212/wnl.0000000000009007.
Повний текст джерелаFung, Eva L. W. "Reader response: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy." Neurology 94, no. 8 (February 24, 2020): 369. http://dx.doi.org/10.1212/wnl.0000000000009009.
Повний текст джерелаVlaskamp, Danique R. M., and Ingrid E. Scheffer. "Author response: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy." Neurology 94, no. 8 (February 24, 2020): 370. http://dx.doi.org/10.1212/wnl.0000000000009010.
Повний текст джерелаKayyali, Husam R., Ahmed Abdelmoity, and Saleh Baeesa. "The Role of Epilepsy Surgery in the Treatment of Childhood Epileptic Encephalopathy." Epilepsy Research and Treatment 2013 (April 18, 2013): 1–6. http://dx.doi.org/10.1155/2013/983049.
Повний текст джерелаFaqeih, E. A., M. Almannai, M. M. Saleh, A. H. AlWadei, M. M. Samman, and F. S. Alkuraya. "Phenotypic characterization of KCTD3 -related developmental epileptic encephalopathy." Clinical Genetics 93, no. 5 (March 15, 2018): 1081–86. http://dx.doi.org/10.1111/cge.13227.
Повний текст джерелаSowada, Nadine, Mais Omar Hashem, Rüstem Yilmaz, Muddathir Hamad, Naseebullah Kakar, Holger Thiele, Stefan T. Arold, Harald Bode, Fowzan S. Alkuraya, and Guntram Borck. "Mutations of PTPN23 in developmental and epileptic encephalopathy." Human Genetics 136, no. 11-12 (October 31, 2017): 1455–61. http://dx.doi.org/10.1007/s00439-017-1850-3.
Повний текст джерелаAeby, Alec, Claudine Sculier, Alexandra A. Bouza, Brandon Askar, Damien Lederer, Anne‐Sofie Schoonjans, Marc Vander Ghinst, et al. "SCN1B ‐linked early infantile developmental and epileptic encephalopathy." Annals of Clinical and Translational Neurology 6, no. 12 (November 11, 2019): 2354–67. http://dx.doi.org/10.1002/acn3.50921.
Повний текст джерелаLyukshina, N. G., A. A. Sharkov, and E. N. Tolmacheva. "Developmental encephalopathy and epilepsy associated with a heterozygous de novo mutation in the IRF2BPL gene: a case report." Russian Journal of Child Neurology 16, no. 1-2 (July 30, 2021): 69–75. http://dx.doi.org/10.17650/2073-8803-2021-16-1-2-69-75.
Повний текст джерелаSadleir, Lynette G., Emily I. Mountier, Deepak Gill, Suzanne Davis, Charuta Joshi, Catherine DeVile, Manju A. Kurian, et al. "Not all SCN1A epileptic encephalopathies are Dravet syndrome." Neurology 89, no. 10 (August 9, 2017): 1035–42. http://dx.doi.org/10.1212/wnl.0000000000004331.
Повний текст джерелаGowda, Vykuntaraju K., Hemadri Vegda, Raghavendraswami Amoghimath, Manojna Battina, Sanjay K. Shivappa, and Naveen Benakappa. "Epileptic Spasms-West syndrome secondary to Dravet syndrome due to SCN gene mutation from India." Karnataka Pediatric Journal 36 (June 2, 2021): 49–53. http://dx.doi.org/10.25259/kpj_36_2020.
Повний текст джерелаAziz, Miriam C., Patricia N. Schneider, and Gemma L. Carvill. "Targeting Poison Exons to Treat Developmental and Epileptic Encephalopathy." Developmental Neuroscience 43, no. 3-4 (2021): 241–46. http://dx.doi.org/10.1159/000516143.
Повний текст джерелаWesterveld, Michael, Ki Lee, and Christine Salinas. "Neuropsychological functioning and developmental outcomes in childhood epileptic encephalopathy." Journal of Pediatric Epilepsy 03, no. 03 (July 18, 2015): 157–71. http://dx.doi.org/10.3233/pep-14090.
Повний текст джерелаRubboli, Guido, and Katrine M. Johannesen. "Expanding the phenotype of PURA-related developmental epileptic encephalopathy." Epileptic Disorders 24, no. 2 (April 2022): 445–46. http://dx.doi.org/10.1684/epd.2021.1407.
Повний текст джерелаShiraku, Hiroshi, Mitsuko Nakashima, Saoko Takeshita, Chai-Soon Khoo, Muzhirah Haniffa, Gaik-Siew Ch'ng, Kazuma Takada, et al. "PLPBPmutations cause variable phenotypes of developmental and epileptic encephalopathy." Epilepsia Open 3, no. 4 (November 1, 2018): 495–502. http://dx.doi.org/10.1002/epi4.12272.
Повний текст джерелаKrenn, Martin, Alexej Knaus, Dominik S. Westphal, Saskia B. Wortmann, Tilman Polster, Friedrich G. Woermann, Michael Karenfort, et al. "Biallelic mutations in PIGP cause developmental and epileptic encephalopathy." Annals of Clinical and Translational Neurology 6, no. 5 (April 11, 2019): 968–73. http://dx.doi.org/10.1002/acn3.768.
Повний текст джерелаShah, Mala M. "A new HCN1 channelopathy: implications for epilepsy." Brain 144, no. 7 (June 11, 2021): 1939–40. http://dx.doi.org/10.1093/brain/awab220.
Повний текст джерелаKnijnenburg, Annemarie C. S., Joost Nicolai, Levinus A. Bok, Akin Bay, Alexander P. A. Stegmann, Margje Sinnema, and Maaike Vreeburg. "Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation." Neurology Genetics 6, no. 3 (April 1, 2020): e418. http://dx.doi.org/10.1212/nxg.0000000000000418.
Повний текст джерелаAmador, Ariadna, Christopher D. Bostick, Heather Olson, Jurrian Peters, Chad R. Camp, Daniel Krizay, Wenjuan Chen, et al. "Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice." Brain 143, no. 7 (June 24, 2020): 2039–57. http://dx.doi.org/10.1093/brain/awaa147.
Повний текст джерелаZhu, Zahra, Elizabeth Bolt, Kyra Newmaster, Wendy Osei-Bonsu, Stacey Cohen, Vishnu Anand Cuddapah, Siddharth Gupta, et al. "SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy." Children 9, no. 10 (October 1, 2022): 1507. http://dx.doi.org/10.3390/children9101507.
Повний текст джерелаGiacomini, Thea, Maria Stella Vari, Sara Janis, Giulia Prato, Livia Pisciotta, Alessia Rocchi, Angela Michelucci, et al. "Epileptic Encephalopathy, Myoclonus–Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene." Neuropediatrics 50, no. 05 (July 18, 2019): 327–31. http://dx.doi.org/10.1055/s-0039-1692141.
Повний текст джерелаChatron, Nicolas, Felicitas Becker, Heba Morsy, Miriam Schmidts, Katia Hardies, Beyhan Tuysuz, Sandra Roselli, et al. "Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy." Brain 143, no. 5 (April 13, 2020): 1447–61. http://dx.doi.org/10.1093/brain/awaa085.
Повний текст джерелаSega, Annalisa G., Emily K. Mis, Kristin Lindstrom, Saadet Mercimek-Andrews, Weizhen Ji, Megan T. Cho, Jane Juusola, et al. "De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy." Journal of Medical Genetics 56, no. 2 (October 15, 2018): 113–22. http://dx.doi.org/10.1136/jmedgenet-2018-105322.
Повний текст джерелаTsuchida, Naomi, Keisuke Hamada, Masaaki Shiina, Mitsuhiro Kato, Yu Kobayashi, Jun Tohyama, Kazue Kimura, et al. "GRIN2D variants in three cases of developmental and epileptic encephalopathy." Clinical Genetics 94, no. 6 (November 14, 2018): 538–47. http://dx.doi.org/10.1111/cge.13454.
Повний текст джерелаSoldovieri, Maria Virginia, Elena Freri, Paolo Ambrosino, Ilaria Rivolta, Ilaria Mosca, Anna Binda, Carmen Murano, et al. "Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy." Pharmacological Research 160 (October 2020): 105200. http://dx.doi.org/10.1016/j.phrs.2020.105200.
Повний текст джерелаOhtahara, Shunsuke, Yoko Ohtsuka, Yasuko Yamatogi, and Eiji Oka. "The early-infantile epileptic encephalopathy with suppression-burst: Developmental aspects." Brain and Development 9, no. 4 (January 1987): 371–76. http://dx.doi.org/10.1016/s0387-7604(87)80110-9.
Повний текст джерелаKim, Hyo Jeong, Donghwa Yang, Se Hee Kim, Borahm Kim, Heung Dong Kim, Joon Soo Lee, Jong Rak Choi, Seung-Tae Lee, and Hoon-Chul Kang. "Genetic and clinical features of SCN8A developmental and epileptic encephalopathy." Epilepsy Research 158 (December 2019): 106222. http://dx.doi.org/10.1016/j.eplepsyres.2019.106222.
Повний текст джерелаWhitney, Robyn, Elaine Choi, and Kevin C. Jones. "The neuroimaging spectrum of SLC13A5 related developmental and epileptic encephalopathy." Seizure 106 (March 2023): 8–13. http://dx.doi.org/10.1016/j.seizure.2023.01.014.
Повний текст джерелаNeuray, Caroline, Reza Maroofian, Marcello Scala, Tipu Sultan, Gurpur S. Pai, Majid Mojarrad, Heba El Khashab, et al. "Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants." Brain 143, no. 8 (July 23, 2020): 2388–97. http://dx.doi.org/10.1093/brain/awaa178.
Повний текст джерелаMukhin, K. Yu, O. A. Pylaeva, M. Yu Bobylova, and V. A. Chadaev. "Genetic epilepsy caused by CDKL5 gene mutations as an example of epileptic encephalopathy and developmental encephalopathy: literature review and own observations." Russian Journal of Child Neurology 16, no. 1-2 (July 30, 2021): 10–41. http://dx.doi.org/10.17650/2073-8803-2021-16-1-2-10-41.
Повний текст джерелаBleakley, Lauren E., Chaseley E. McKenzie, Ming S. Soh, Ian C. Forster, Paulo Pinares-Garcia, Alicia Sedo, Anirudh Kathirvel, et al. "Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy." Brain 144, no. 7 (April 1, 2021): 2060–73. http://dx.doi.org/10.1093/brain/awab145.
Повний текст джерелаXiangWei, Wenshu, Varun Kannan, Yuchen Xu, Gabrielle J. Kosobucki, Anthony J. Schulien, Hirofumi Kusumoto, Christelle Moufawad El Achkar, et al. "Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy." Brain 142, no. 10 (August 31, 2019): 3009–27. http://dx.doi.org/10.1093/brain/awz232.
Повний текст джерелаVlaskamp, Danique R. M., Benjamin J. Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T. Myers, et al. "SYNGAP1 encephalopathy." Neurology 92, no. 2 (December 12, 2018): e96-e107. http://dx.doi.org/10.1212/wnl.0000000000006729.
Повний текст джерелаCharkhand, Behshad, Natarie Liu, Karlene T. Barrett, Walla Al-Hertani, and Morris H. Scantlebury. "An Unusual Case of Infantile Spasms Due to a Pathogenic Variant in the MECP2 Gene." Journal of Pediatric Neurology 18, no. 01 (March 13, 2019): 039–44. http://dx.doi.org/10.1055/s-0039-1683436.
Повний текст джерелаBurr, Tyler J., and Karen L. Skjei. "Dravet Syndrome: Early Diagnosis and Emerging Therapies." Journal of Pediatric Epilepsy 08, no. 02 (June 2019): 031–37. http://dx.doi.org/10.1055/s-0039-1692171.
Повний текст джерелаAlTassan, Ruqaiah, Hanan AlQudairy, Rakan Alromayan, Abdullah Alfalah, Omar A. AlHarbi, Ana C. González-Álvarez, Stefan T. Arold, and Namik Kaya. "Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1." Genes 13, no. 12 (November 30, 2022): 2252. http://dx.doi.org/10.3390/genes13122252.
Повний текст джерелаTanaka, Ryosuke, Satoru Takahashi, Mami Kuroda, Ryo Takeguchi, Nao Suzuki, Yoshio Makita, Yoko Narumi-Kishimoto, and Tadashi Kaname. "Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy." Epileptic Disorders 22, no. 4 (August 2020): 501–5. http://dx.doi.org/10.1684/epd.2020.1187.
Повний текст джерелаKim, Hyo Jeong, Donghwa Yang, Se Hee Kim, Borahm Kim, Heung Dong Kim, Joon Soo Lee, Jong Rak Choi, Seung-Tae Lee, and Hoon-Chul Kang. "The phenotype and treatment of SCN2A-related developmental and epileptic encephalopathy." Epileptic Disorders 22, no. 5 (October 2020): 563–70. http://dx.doi.org/10.1684/epd.2020.1199.
Повний текст джерелаYoganathan, Sangeetha, Gautham Arunachal, Vykuntaraju K. Gowda, Kollencheri Puthenveettil Vinayan, Maya Thomas, Robyn Whitney, and Puneet Jain. "NTRK2-related developmental and epileptic encephalopathy: Report of 5 new cases." Seizure 92 (November 2021): 52–55. http://dx.doi.org/10.1016/j.seizure.2021.08.008.
Повний текст джерелаLo Barco, Tommaso, Luciana De Gaetano, Elisabetta Santangelo, Tonino Bravi, Jacopo Proietti, Gaetano Cantalupo, Isabella Brambilla, and Francesca Darra. "SYNGAP1-related developmental and epileptic encephalopathy: The impact on daily life." Epilepsy & Behavior 127 (February 2022): 108500. http://dx.doi.org/10.1016/j.yebeh.2021.108500.
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