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mTOR pathway: Insights into an established pathway for brain mosaicism in epilepsy.
Gerasimenko A, Baldassari S, Baulac S. Gerasimenko A, et al. Neurobiol Dis. 2023 Jun 15;182:106144. doi: 10.1016/j.nbd.2023.106144. Epub 2023 May 4. Neurobiol Dis. 2023. PMID: 37149062 Free article. Review.
The spectrum of cortical dysplasia results from somatic brain mutations in the mTOR pathway activators AKT3, MTOR, PIK3CA, and RHEB and from germline and somatic mutations in mTOR pathway repressors, DEPDC5, NPRL2, NPRL3, TSC1 and TSC2. The mTORopathies are characterized b …
The spectrum of cortical dysplasia results from somatic brain mutations in the mTOR pathway activators AKT3, MTOR, PIK3CA, and RHEB and from …
DEPDC5 plays a vital role in epilepsy: Genotypic and phenotypic features in cohort and literature.
Gu C, Wei X, Yan D, Cai Y, Li D, Shu J, Cai C. Gu C, et al. Epileptic Disord. 2024 Jun;26(3):341-349. doi: 10.1002/epd2.20223. Epub 2024 May 16. Epileptic Disord. 2024. PMID: 38752894 Review.
OBJECTIVE: DEPDC5 emerges to play a vital role in focal epilepsy. However, genotype-phenotype correlation in DEPDC5-related focal epilepsies is challenging and controversial. ...Besides, the overall penetrance of variants in DEPDC5 was 68.96% (231/335). SIGNI …
OBJECTIVE: DEPDC5 emerges to play a vital role in focal epilepsy. However, genotype-phenotype correlation in DEPDC5-related fo …
Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy.
Bacq A, Roussel D, Bonduelle T, Zagaglia S, Maletic M, Ribierre T, Adle-Biassette H, Marchal C, Jennesson M, An I; Genomics England Research Consortium; Picard F, Navarro V, Sisodiya SM, Baulac S. Bacq A, et al. Ann Neurol. 2022 Jan;91(1):101-116. doi: 10.1002/ana.26256. Epub 2021 Nov 16. Ann Neurol. 2022. PMID: 34693554 Free PMC article.
METHODS: Clinical cardiac investigations were performed in 16 patients with pathogenic variants in DEPDC5, NPRL2, or NPRL3. Two novel Depdc5 mouse strains, a human HA-tagged Depdc5 strain and a Depdc5 heterozygous knockout with a neuron-specific deleti …
METHODS: Clinical cardiac investigations were performed in 16 patients with pathogenic variants in DEPDC5, NPRL2, or NPRL3. Two novel …
Neurophysiological assessment of cortical activity in DEPDC5- and NPRL3-related epileptic mTORopathies.
Mabika M, Agbogba K, Côté S, Lippé S, Riou É, Cieuta C, Lepage JF. Mabika M, et al. Orphanet J Rare Dis. 2023 Jan 14;18(1):11. doi: 10.1186/s13023-022-02600-6. Orphanet J Rare Dis. 2023. PMID: 36639812 Free PMC article.
BACKGROUND: Mutations in the GATOR1 complex genes, DEPDC5 and NPRL3, play a major role in the development of lesional and non-lesional focal epilepsy through increased mTORC1 signalling. ...However, stronger EEG theta oscillations and stronger and more synchronous gamma os …
BACKGROUND: Mutations in the GATOR1 complex genes, DEPDC5 and NPRL3, play a major role in the development of lesional and non-lesiona …
Clinical and genetic features of GATOR1 complex-associated epilepsy.
Yin K, Lei X, Yan Z, Yang Y, Deng Q, Lu Q, Zhang X, Wang M, Liu Q. Yin K, et al. J Med Genet. 2023 Aug;60(8):784-790. doi: 10.1136/jmg-2021-108364. Epub 2023 Jan 5. J Med Genet. 2023. PMID: 36604176
Functional assessments showed that the three variants affected DEPDC5 expression. These loss-of-function (LoF) variants affected the DEPDC5-dependent inhibition of mTOR. CONCLUSIONS: Patients carrying DEPDC5-LoF variants might show a high prevalence of focal …
Functional assessments showed that the three variants affected DEPDC5 expression. These loss-of-function (LoF) variants affected the …
Somatic variant analysis of resected brain tissue in epilepsy surgery patients.
Sanders MWCB, Koeleman BPC, Brilstra EH, Jansen FE, Baldassari S, Chipaux M, Sim NS, Ko A, Kang HC, Blümcke I, Lal D, Baulac S, Lee JH, Aronica E, Braun KPJ. Sanders MWCB, et al. Epilepsia. 2024 Dec;65(12):e209-e215. doi: 10.1111/epi.18148. Epub 2024 Oct 26. Epilepsia. 2024. PMID: 39460693 Free PMC article.
Six of 69 (9%) patients without a histopathological lesion had a pathogenic variant in SLC35A2 (n = 5) or DEPDC5 (n = 1). A germline variant in blood DNA was confirmed in all cases with a pathogenic variant in tissue, with a variant allele frequency (VAF) of ~50%. ...
Six of 69 (9%) patients without a histopathological lesion had a pathogenic variant in SLC35A2 (n = 5) or DEPDC5 (n = 1). A germline …
Novel GATOR1 variants in focal epilepsy.
Kovačević M, Janković M, Branković M, Milićević O, Novaković I, Sokić D, Ristić A, Shamsani J, Vojvodić N. Kovačević M, et al. Epilepsy Behav. 2023 Apr;141:109139. doi: 10.1016/j.yebeh.2023.109139. Epub 2023 Feb 26. Epilepsy Behav. 2023. PMID: 36848747
Sequencing was performed using a custom gene panel encompassing DEPDC5, NPRL2, and NPRL3. Variants of interest (VOI) were classified according to criteria proposed by the American College of Medical Genetics and the Association for Molecular Pathology. ...Three likely path …
Sequencing was performed using a custom gene panel encompassing DEPDC5, NPRL2, and NPRL3. Variants of interest (VOI) were classified …
The transcriptomic signature of DEPDC5 KO induced mTOR hyperactivation in human neurons and its response to rapamycin treatment.
Jones MSO, Lindlar S, Ludwig J, Waltes R, Kumar A, V Brauchitsch S, Rossi A, Ullrich E, Momma S, Freitag CM, Hefendehl JK, Klein KM, Rosenow F, Haslinger D, Chiocchetti AG. Jones MSO, et al. Epilepsia. 2025 Nov;66(11):4538-4553. doi: 10.1111/epi.18549. Epub 2025 Jul 24. Epilepsia. 2025. PMID: 40704780 Free PMC article.
OBJECTIVE: Mutations of the DEP Domain Containing 5 gene (DEPDC5), a mechanistic Target of Rapamycin (mTOR) inhibitor involved in amino acid sensing, are associated with neurological diseases such as epilepsy and/or autism spectrum disorder (ASD …
OBJECTIVE: Mutations of the DEP Domain Containing 5 gene (DEPDC5), a mechanistic Target of Rapamycin (mTO …
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S; Genomics England Research Consortium; Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A, Parker J, Hoskins B, Pressler R, Sudhakar S, DeVile C, Homfray T, Kaliakatsos M; Ponnudas (Prab) Prabhakar; Robinson R, Keim SMB, Habibi I, Reymond A, Sisodiya SM, Hurst JA. Ververi A, et al. Hum Mol Genet. 2023 Jan 27;32(4):580-594. doi: 10.1093/hmg/ddac225. Hum Mol Genet. 2023. PMID: 36067010 Free PMC article.
The Irish Traveller children shared the same DEPDC5 germline homozygous missense variant (p.Thr337Arg), whereas the Lebanese and Tunisian children shared a different germline homozygous variant (p.Arg806Cys). ...The clinical, histopathological and genetic evidence supports …
The Irish Traveller children shared the same DEPDC5 germline homozygous missense variant (p.Thr337Arg), whereas the Lebanese and Tuni …
45 results