DEPDC5 mutations in familial epilepsy syndrome: genetic insights and therapeutic approaches

Authors: M. K.C. Diallo, S. Mukesh, L. Kapil, R. Singla, D. Tar, S. N. Tammineedi, E. Singer, H. Chhayani, K. Arumaithurai, U. K. Patel, R. Arora

Source: Эпилепсия и пароксизмальные состояния, Vol 16, Iss 4, Pp 338-348 (2025)

Subject Terms: depdc5, mtor, gator1, familial focal epilepsy with variable foci, ffevf, magnetic resonance imagery, mri, sudden unexplained death in epilepsy, sudep, electroencephalogram, eeg, focal cortical dysplasia, fcd, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.epilepsia.su/jour/article/view/1152; https://doaj.org/toc/2077-8333; https://doaj.org/toc/2311-4088

Access URL: https://doaj.org/article/dbb80a89d60e4e988acd751a1055508a

A missense variant in DEPDC5 resulted in abnormal morphology and increased seizure susceptibility and mortality through regulating mTOR signaling

Authors: Jie Liu, Rui Huang, Fenglin Tang, Yuanlin Ma, Patrick Kwan

Source: Neurobiology of Disease, Vol 207, Iss , Pp 106842- (2025)

Subject Terms: mTOR, Epilepsy, DEPDC5, Rapamycin, Seizure susceptibility, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996125000580; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/4ab5bfcc07404b7daee2584e265864c3

GATOR1 gene variants in focal epilepsy

Authors: Kovačević Maša, Vojvodić Nikola, Novaković Ivana

Source: Medicinski Podmladak, Vol 75, Iss 3, Pp 21-27 (2024)

Subject Terms: focal epilepsy, genetic epilepsy, depdc5, nprl2, nprl3, gator1, Medicine

File Description: electronic resource

Relation: https://scindeks-clanci.ceon.rs/data/pdf/0369-1527/2024/0369-15272403021K.pdf; https://doaj.org/toc/0369-1527; https://doaj.org/toc/2466-5525

Access URL: https://doaj.org/article/4ca857acb8da4d768fb98cfcde2d58db

DEPDC5-related familial focal epilepsy

Authors: T. V. Kozhanova, S. S. Zhilina, L. M. Sushko, E. G. Lukyanova, K. V. Osipova, A. I. Krapivkin, N. N. Zavadenko

Source: Эпилепсия и пароксизмальные состояния, Vol 15, Iss 4, Pp 339-347 (2023)

Subject Terms: focal epilepsy, depdc5 gene, focal cortical dysplasia, whole exome sequencing, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.epilepsia.su/jour/article/view/960; https://doaj.org/toc/2077-8333; https://doaj.org/toc/2311-4088

Access URL: https://doaj.org/article/d6edefd7780b4510ab3b40de97b4a2ea

Evaluating the efficacy of a ketogenic diet in managing drug resistant paediatric DEDPC5-related epilepsy

Authors: Winczewska-Wiktor, Anna ^{a, ⁎}, Braszka, Małgorzata ^b, Harada-Laszlo, Mia ^b, Badura-Stronka, Magdalena ^c, Kaczmarek, Izabela ^a, Starczewska, Monika ^a, Wencel-Warot, Agnieszka ^a, Steinborn, Barbara ^a, Jamsheer, Aleksander ^c

Source: In Epilepsy & Behavior January 2024 150

Neurophysiological assessment of cortical activity in DEPDC5- and NPRL3-related epileptic mTORopathies

Authors: Madora Mabika, Kristian Agbogba, Samantha Côté, Sarah Lippé, Émilie Riou, Cécile Cieuta, Jean-François Lepage

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-15 (2023)

Subject Terms: mTORC1, GATOR1, DEPDC5, NPRL3, Epilepsy, GABA, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/d58bfc4718b74897a9a1d20383163883

Gut epithelial Depdc5/mTORC1 signaling axis regulates mouse intestinal epithelial homeostasis

Authors: ZHANG Xin-ge, MA Jie, WANG Qing-zhi, XIN Yue, YANG Chen-yan, XIONG Xi-wen

Source: Jichu yixue yu linchuang, Vol 42, Iss 8, Pp 1213-1219 (2022)

Subject Terms: depdc5, mtorc1, iecs, rapamycin, Medicine

File Description: electronic resource

Relation: http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2022-42-8-1213.pdf; https://doaj.org/toc/1001-6325

Access URL: https://doaj.org/article/72e306b4f04a4e2a85c48a900d0b3c2b

What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report

Authors: Chunyu Gu, Xiaowei Lu, Jinhui Ma, Linjie Pu, Xiufang Zhi, Jianbo Shu, Dong Li, Chunquan Cai

Source: BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)

Subject Terms: DEPDC5, Focal epilepsy, Whole exome sequencing, FFEVF, Case report, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/e6660956ec24496f986017119887fa9e

Focal cortical dysplasia as a cause of epilepsy: The current evidence of associated genes and future therapeutic treatments

Authors: Garrett L. Garner, Daniel R. Streetman, Joshua G. Fricker, Nicholas E. Bui, Chenyi Yang, Neal A. Patel, Nolan J. Brown, Shane Shahrestani, India C. Rangel, Rohin Singh, Julian L. Gendreau

Source: Interdisciplinary Neurosurgery, Vol 30, Iss , Pp 101635- (2022)

Subject Terms: DEPDC5, Epilepsy, Focal cortical dysplasia, Germline, Markers, Surgery, RD1-811, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214751922001499; https://doaj.org/toc/2214-7519

Access URL: https://doaj.org/article/9ae412615d1d49f593163e2fa943d41f

Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy

Authors: Hortense de Calbiac, author^{1, 2}, Adriana Dabacan, author³, Raul Muresan, author³, Edor Kabashi, author^{1, 2}, Sorana Ciura, author^{1, 2}

Source: Journal of Visualized Experiments. (176)

Availability: http://www.jove.com/video/58837

Explosive onset focal epilepsies without cortical malformation: A review of a pediatric cohort with pathogenic variations in the GATOR1 complex (DEPDC5, NPRL3 and NPRL2)

Authors: Baer, Sarah ^{a, b, g, ⁎}, Abi Wardé, Marie-Thérèse ^{a, g}, Spitz, Marie-Aude ^{a, g}, Gauer, Lucas ^{c, g}, Hirsch, Edouard ^{c, g}, Laugel, Vincent ^{a, g}, Valenti Hirsch, Maria Paola ^{c, g}, Lambert, Carole ^{c, g}, Piton, Amélie ^{b, d}, Schluth-Bolard, Caroline ^{d, e}, Scholly, Julia ^{f, g}, Biehler, Margaux ^d, Boulay, Clotilde ^{c, g}, de Saint Martin, Anne ^{a, b, g}

Source: In Seizure: European Journal of Epilepsy July 2025 129:25-28

Epilepsy With Auditory Features: From Etiology to Treatment

Authors: Alessandro Furia, Laura Licchetta, Lorenzo Muccioli, Lorenzo Ferri, Barbara Mostacci, Stefania Mazzoni, Veronica Menghi, Raffaella Minardi, Paolo Tinuper, Francesca Bisulli

Source: Frontiers in Neurology, Vol 12 (2022)

Subject Terms: auditory hallucinations, epilepsy, DEPDC5, mTOR, LGI1, aphasic seizures, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.807939/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/e162d184919d4142869bd80702524543

The clinical phenotypes and genetic characteristics of seven epilepsy patients related to heterozygous DEPDC5 variants in China

Authors: Zihan Wei, Luojun Wang, Xiaozhi Qiao, Ying Zhang, Chao Liu, Yanchun Deng

Source: Acta Epileptologica, Vol 2, Iss 1, Pp 1-9 (2020)

Subject Terms: DEPDC5 related epilepsy, EEG pattern, Drug resistance, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s42494-020-0011-9; https://doaj.org/toc/2524-4434

Access URL: https://doaj.org/article/93ee0f0c5b044d53a26d9cf689a24d9c

Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review

Authors: Xuan Zhang, Zhaoyang Huang, Jianghong Liu, Mingyu Li, Xiaoling Zhao, Jing Ye, Yuping Wang

Source: Frontiers in Neurology, Vol 12 (2021)

Subject Terms: penetrance, refractory epilepsy, genotype, phenotype, family focal epilepsy, DEPDC5, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.641019/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/c59cf98a0ab244aea006a9879b2a1e4e

DEPDC5 Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect

Authors: Liu Liu, Zi-Rong Chen, Hai-Qing Xu, De-Tian Liu, Yong Mao, Han-Kui Liu, Xiao-Rong Liu, Peng Zhou, Si-Mei Lin, Bin Li, Na He, Tao Su, Qiong-Xiang Zhai, Heng Meng, Wei-Ping Liao, Yong-Hong Yi

Source: Frontiers in Neuroscience, Vol 14 (2020)

Subject Terms: DEPDC5, focal epilepsy, febrile seizures, genotype–phenotype correlation, molecular sub-regional effect, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fnins.2020.00821/full; https://doaj.org/toc/1662-453X

Access URL: https://doaj.org/article/1b5a226905c6458c8167853cff9b7962

Acute knockdown of Depdc5 leads to synaptic defects in mTOR-related epileptogenesis

Authors: Antonio De Fusco, Maria Sabina Cerullo, Antonella Marte, Caterina Michetti, Alessandra Romei, Enrico Castroflorio, Stephanie Baulac, Fabio Benfenati

Source: Neurobiology of Disease, Vol 139, Iss , Pp 104822- (2020)

Subject Terms: Depdc5, mTOR pathway, Knockdown, Synapses, RNA interference, Heterozygous mice, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996120300978; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/5e49a26eb9364abf91820e753eb77667

A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility

Authors: Christopher J. Yuskaitis, Brandon M. Jones, Rachel L. Wolfson, Chloe E. Super, Sameer C. Dhamne, Alexander Rotenberg, David M. Sabatini, Mustafa Sahin, Annapurna Poduri

Source: Neurobiology of Disease, Vol 111, Iss , Pp 91-101 (2018)

Subject Terms: DEPDC5, Focal cortical dysplasia, mTOR, Familial focal epilepsy, Seizures, Conditional knockout, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996117302942; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/8d170fb56a97490b916b45841e461d6c

Depdc5 knockout rat: A novel model of mTORopathy

Authors: Elise Marsan, Saeko Ishida, Adrien Schramm, Sarah Weckhuysen, Giuseppe Muraca, Sarah Lecas, Ning Liang, Caroline Treins, Mario Pende, Delphine Roussel, Michel Le Van Quyen, Tomoji Mashimo, Takehito Kaneko, Takashi Yamamoto, Tetsushi Sakuma, Séverine Mahon, Richard Miles, Eric Leguern, Stéphane Charpier, Stéphanie Baulac

Source: Neurobiology of Disease, Vol 89, Iss , Pp 180-189 (2016)

Subject Terms: DEPDC5, Familial focal epilepsy, Focal cortical dysplasia, mTOR, Rapamycin, Knockout, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996116300316; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/848e02bb7fa74f6fb765b3d6bcd24fad

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