Research & Literature

Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.

Baulac S, Ishida S, Marsan E, et al.

Annals of neurology 2015; (77(4)):675-83 doi:10.1002/ana.24368.

Long-term efficacy and safety of thalamic stimulation for drug-resistant partial epilepsy.

Salanova V, Witt T, Worth R, et al.

Neurology 2015; (84(10)):1017-25 doi:10.1212/WNL.0000000000001334.

Sleep-Related Epilepsy.

Carreño M, Fernández S

Current treatment options in neurology 2016; (18(5)):23 doi:10.1007/s11940-016-0402-9.

Non-invasive treatment options for focal cortical dysplasia.

Wang TT, Zhou D

Experimental and therapeutic medicine 2016; (11(5)):1537-1541 doi:10.3892/etm.2016.3100.

Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.

Weckhuysen S, Marsan E, Lambrecq V, et al.

Epilepsia 2016; (57(6)):994-1003 doi:10.1111/epi.13391.

A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation.

Ferri L, Bisulli F, Mai R, et al.

Seizure 2017; (53()):51-54 doi:10.1016/j.seizure.2017.10.022.

Update on current care guideline: status epileptics.

Duodecim; laaketieteellinen aikakauskirja 2016; (132(15)):1385-6.

DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons.

Iffland PH, Baybis M, Barnes AE, et al.

Neurobiology of disease 2018; (114()):184-193 doi:10.1016/j.nbd.2018.02.013.

Partial deletion of DEPDC5 in a child with focal epilepsy.

Bonaglia MC, Giorda R, Epifanio R, et al.

Epilepsia open 2016; (1(3-4)):140-144 doi:10.1002/epi4.12012.

Architecture of the human GATOR1 and GATOR1-Rag GTPases complexes.

Shen K, Huang RK, Brignole EJ, et al.

Nature 2018; (556(7699)):64-69 doi:10.1038/nature26158.

18F-FDG PET in drug-resistant epilepsy due to focal cortical dysplasia type 2: additional value of electroclinical data and coregistration with MRI.

Desarnaud S, Mellerio C, Semah F, et al.

European journal of nuclear medicine and molecular imaging 2018; (45(8)):1449-1460 doi:10.1007/s00259-018-3994-3.

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy.

Ribierre T, Deleuze C, Bacq A, et al.

The Journal of clinical investigation 2018; (128(6)):2452-2458.

Skeletal muscle-specific knockout of DEP domain containing 5 protein increases mTORC1 signaling, muscle cell hypertrophy, and mitochondrial respiration.

Graber TG, Fry CS, Brightwell CR, et al.

The Journal of biological chemistry 2019; (294(11)):4091-4102 doi:10.1074/jbc.RA118.005970.

Recommendations for the use of structural magnetic resonance imaging in the care of patients with epilepsy: A consensus report from the International League Against Epilepsy Neuroimaging Task Force.

Bernasconi A, Cendes F, Theodore WH, et al.

Epilepsia 2019; (60(6)):1054-1068 doi:10.1111/epi.15612.

Magnetoencephalogram-assisted diagnosis of familial focal epilepsy with variable foci in a Chinese family with a novel DEPDC5 mutation.

Li M, Huang Z, Zhang X, et al.

Epileptic disorders : international epilepsy journal with videotape 2019; (21(3)):289-294 doi:10.1684/epd.2019.1066.

Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.

Lee WS, Stephenson SEM, Howell KB, et al.

Annals of clinical and translational neurology 2019; (6(7)):1338-1344 doi:10.1002/acn3.50815.

Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.

Baldassari S, Ribierre T, Marsan E, et al.

Acta neuropathologica 2019; (138(6)):885-900 doi:10.1007/s00401-019-02061-5.

[Clinical and genetic characteristics of focal epilepsy in children caused by GATOR1 complex gene variation].

Deng J, Fang F, Wang XH, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2019; (57(10)):780-785 doi:10.3760/cma.j.issn.0578-1310.2019.10.010.

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

De Fusco A, Cerullo MS, Marte A, et al.

Neurobiology of disease 2020; (139()):104822 doi:10.1016/j.nbd.2020.104822.

DEPDC5 haploinsufficiency drives increased mTORC1 signaling and abnormal morphology in human iPSC-derived cortical neurons.

Klofas LK, Short BP, Snow JP, et al.

Neurobiology of disease 2020; (143()):104975 doi:10.1016/j.nbd.2020.104975.

Improved seizure burden and cognitive performance in a child treated with responsive neurostimulation (RNS) following febrile infection related epilepsy syndrome (FIRES).

Theroux L, Shah Y, Cukier Y, et al.

Epileptic disorders : international epilepsy journal with videotape 2020; (22(6)):811-816 doi:10.1684/epd.2020.1224.

Diagnosis and Treatment of Status Epilepticus.

Lee SK

Journal of epilepsy research 2020; (10(2)):45-54 doi:10.14581/jer.20008.

Incidence and Prevalence of Drug-Resistant Epilepsy: A Systematic Review and Meta-analysis.

Sultana B, Panzini MA, Veilleux Carpentier A, et al.

Neurology 2021; (96(17)):805-817 doi:10.1212/WNL.0000000000011839.

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

Zhang X, Huang Z, Liu J, et al.

Frontiers in neurology 2021; (12()):641019 doi:10.3389/fneur.2021.641019.

DEPDC5-related epilepsy: A comprehensive review.

Samanta D

Epilepsy & behavior : E&B 2022; (130()):108678 doi:10.1016/j.yebeh.2022.108678.

The role of neurosurgery in the management of tuberous sclerosis complex-associated epilepsy: a systematic review.

Nie JZ, Karras CL, Trybula SJ, et al.

Neurosurgical focus 2022; (52(5)):E6 doi:10.3171/2022.2.FOCUS21789.

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

Gu C, Lu X, Ma J, et al.

BMC pediatrics 2022; (22(1)):459 doi:10.1186/s12887-022-03515-8.

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.

Ververi A, Zagaglia S, Menzies L, et al.

Human molecular genetics 2023; (32(4)):580-594 doi:10.1093/hmg/ddac225.

Clinical and genetic features of GATOR1 complex-associated epilepsy.

Yin K, Lei X, Yan Z, et al.

Journal of medical genetics 2023; (60(8)):784-790 doi:10.1136/jmg-2021-108364.

Neurological update: structural and functional imaging in epilepsy surgery.

Yoganathan K, Malek N, Torzillo E, et al.

Journal of neurology 2023; (270(5)):2798-2808 doi:10.1007/s00415-023-11619-z.

Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy.

Zhang H, Deng J, Wang X, et al.

Frontiers in neurology 2023; (14()):1113747 doi:10.3389/fneur.2023.1113747.

Impact of an optimized epilepsy surgery imaging protocol for focal epilepsy: A monocentric prospective study.

Vaudano AE, Ballerini A, Zucchini F, et al.

Epileptic disorders : international epilepsy journal with videotape 2023; (25(1)):45-56 doi:10.1002/epd2.20050.

Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy.

Bartolini E, Della Vecchia S, Biagioni T, et al.

Neuropediatrics 2023; (54(5)):347-350 doi:10.1055/a-2067-5096.

Advances in Image Processing for Epileptogenic Zone Detection with MRI.

Uher D, Drenthen GS, Schijns OEMG, et al.

Radiology 2023; (307(5)):e220927 doi:10.1148/radiol.220927.

Observation of a Possible Successful Treatment of DEPDC5-Related Epilepsy with mTOR Inhibitor.

Hadzsiev K, Hegyi M, Fogarasi A, et al.

Neuropediatrics 2023; (54(5)):344-346 doi:10.1055/a-2104-1614.

Everolimus precision therapy for the GATOR1-related epilepsies: A case series.

Moloney PB, Kearney H, Benson KA, et al.

European journal of neurology 2023; (30(10)):3341-3346 doi:10.1111/ene.15975.

Sudden Unexpected Death in Epilepsy and Respiratory Defects in a Mouse Model of DEPDC5-Related Epilepsy.

Kao HY, Yao Y, Yang T, et al.

Annals of neurology 2023; (94(5)):812-824 doi:10.1002/ana.26773.

The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.

Macdonald-Laurs E, Warren AEL, Francis P, et al.

Brain : a journal of neurology 2024; (147(4)):1264-1277 doi:10.1093/brain/awad379.

Seizure Control Outcomes following Resection of Cortical Dysplasia in Patients with DEPDC5 Variants: A Systematic Review and Individual Patient Data Analysis.

McGinley C, Teti S, Hofmann K, et al.

Neuropediatrics 2024; (55(1)):1-8 doi:10.1055/a-2213-8584.

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

Winczewska-Wiktor A, Braszka M, Harada-Laszlo M, et al.

Epilepsy & behavior : E&B 2024; (150()):109535 doi:10.1016/j.yebeh.2023.109535.

DEPDC5 plays a vital role in epilepsy: Genotypic and phenotypic features in cohort and literature.

Gu C, Wei X, Yan D, et al.

Epileptic disorders : international epilepsy journal with videotape 2024; (26(3)):341-349 doi:10.1002/epd2.20223.

Nonsense mutation in DEPDC5 gene in a patient with carbamazepine-responsive focal epilepsy.

Mulkerrin G, Hennessy MJ

Epilepsy & behavior reports 2024; (27()):100683 doi:10.1016/j.ebr.2024.100683.

Ictal and Postictal Central Apnea in DEPDC5-Related Epilepsy.

Meletti S, Duma GM, Burani M, et al.

Neurology. Genetics 2024; (10(5)):e200183 doi:10.1212/NXG.0000000000200183.

MEG in MRI-Negative Patients with Focal Epilepsy.

Kreidenhuber R, Poppert KN, Mauritz M, et al.

Journal of clinical medicine 2024; (13(19)) doi:10.3390/jcm13195746.

Somatic variant analysis of resected brain tissue in epilepsy surgery patients.

Sanders MWCB, Koeleman BPC, Brilstra EH, et al.

Epilepsia 2024; (65(12)):e209-e215 doi:10.1111/epi.18148.

Multimodal and quantitative analysis of the epileptogenic zone network in the pre-surgical evaluation of drug-resistant focal epilepsy.

Karimi-Rouzbahani H, Vogrin S, Cao M, et al.

Neurophysiologie clinique = Clinical neurophysiology 2024; (54(6)):103021 doi:10.1016/j.neucli.2024.103021.

An overview of the value of mTOR inhibitors to the treatment of epilepsy: the evidence to date.

Moloney PB, Delanty N

Expert review of neurotherapeutics 2025; 1-17 doi:10.1080/14737175.2025.2462280.

Dual Diagnosis of Fragile X Syndrome and DEPDC5-Related Disorder Emphasizes DEPDC5's Role Beyond Familial Epilepsy: A Case Report and Literature Review.

Edwards R, Murphy G, Owens JW, et al.

Case reports in genetics 2025; (2025()):4501466 doi:10.1155/crig/4501466.

Seizure first aid in the community: current situation, suggestions, and the role of the general practitioner in seizure management.

Sun M, Meng F, Xu ZY, Guo Y

Acta epileptologica 2025; (7(1)):11 doi:10.1186/s42494-025-00202-w.

DEPDC5-Related Familial Focal Epilepsy With Variable Foci-1: A Report of a Rare Case.

Itani A, Banjade P, Shrestha U, et al.

Cureus 2025; (17(5)):e84627 doi:10.7759/cureus.84627.

Identification of a Second-Hit Brain Somatic DEPDC5 Variant Supports Causality of a DEPDC5 Germline Variant of Uncertain Significance. Time for a Classification Update?

Alsayed A, Hakim Z, Merrikh D, et al.

American journal of medical genetics. Part A 2025; (197(12)):e64204 doi:10.1002/ajmg.a.64204.

MRI-negative epilepsy: A systematic review and meta-analysis.

Gill RS, Deleo F, Bernhardt B, et al.

Epilepsia 2025; (66(12)):4939-4949 doi:10.1111/epi.18616.

Everolimus precision therapy in NPRL2- and NPRL3-related epilepsy.

Carapancea E, Eklund EA, Verhelst H, Cilio MR

Epilepsia 2025; (66(9)):e219-e225 doi:10.1111/epi.18543.

Insights Into DEPDC5-Related Epilepsy From 586 People: Variant Penetrance, Phenotypic Spectrum, and Treatment Outcomes.

Ochoa-Urrea M, Butler EA, Bruenger T, et al.

Neurology 2025; (105(9)):e214235 doi:10.1212/WNL.0000000000214235.

Case Report: Unraveling clinical heterogeneity in DEPDC5-related epilepsy: a genotype-phenotype correlation study in eight pediatric cases.

Zhao T, Chen F, Cao B, et al.

Frontiers in neuroscience 2025; (19()):1595667 doi:10.3389/fnins.2025.1595667.

Genotypic and phenotypic analysis of epilepsy associated with NPRL2/NPRL3 genes.

Su S, Zhang H, Zhang Q, et al.

Seizure 2025; (133()):208-218 doi:10.1016/j.seizure.2025.10.023.

Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.

Thormeyer V, Meyer Z, Polster T, et al.

Neuropediatrics 2026; (57(1)):17-26 doi:10.1055/a-2731-4858.

Aberrant RNA splicing caused by variant in DEPDC5 identified in a patient with pharmacoresistant epilepsy.

Zhou C, Wei X, Xiang Q, et al.

Neurogenetics 2026; (27(1)).

2025 Korean Guidelines for Cardiopulmonary Resuscitation: Part 11. First aid.

Woo SH, Lee CH, Kim MY, et al.

Clinical and experimental emergency medicine 2026; (13(Suppl 1)):S185-S194 doi:10.15441/ceem.26.076.