Journal articles on the topic 'Developmental and epileptic encephalopathy'
Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles
Consult the top 50 journal articles for your research on the topic 'Developmental and epileptic encephalopathy.'
Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.
You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.
Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.
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.
Full textBerg, 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.
Full textWild, 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.
Full textGardella, 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.
Full textHung, 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.
Full textLopez-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.
Full textBartolini, Emanuele. "Inherited Developmental and Epileptic Encephalopathies." Neurology International 13, no. 4 (November 3, 2021): 555–68. http://dx.doi.org/10.3390/neurolint13040055.
Full textStawicka, 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.
Full textTakai, 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.
Full textJohannesen, 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.
Full textLewis, 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.
Full textWolf, 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.
Full textFung, 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.
Full textVlaskamp, 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.
Full textKayyali, 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.
Full textFaqeih, 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.
Full textSowada, 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.
Full textAeby, 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.
Full textLyukshina, 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.
Full textSadleir, 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.
Full textGowda, 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.
Full textAziz, 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.
Full textWesterveld, 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.
Full textRubboli, 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.
Full textShiraku, 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.
Full textKrenn, 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.
Full textShah, 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.
Full textKnijnenburg, 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.
Full textAmador, 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.
Full textZhu, 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.
Full textGiacomini, 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.
Full textChatron, 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.
Full textSega, 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.
Full textTsuchida, 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.
Full textSoldovieri, 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.
Full textOhtahara, 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.
Full textKim, 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.
Full textWhitney, 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.
Full textNeuray, 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.
Full textMukhin, 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.
Full textBleakley, 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.
Full textXiangWei, 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.
Full textVlaskamp, 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.
Full textCharkhand, 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.
Full textBurr, 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.
Full textAlTassan, 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.
Full textTanaka, 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.
Full textKim, 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.
Full textYoganathan, 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.
Full textLo 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.
Full text