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61 results

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Page 1
X-Linked Epilepsies: A Narrative Review.
Bernardo P, Cuccurullo C, Rubino M, De Vita G, Terrone G, Bilo L, Coppola A. Bernardo P, et al. Int J Mol Sci. 2024 Apr 8;25(7):4110. doi: 10.3390/ijms25074110. Int J Mol Sci. 2024. PMID: 38612920 Free PMC article. Review.
In this review, we comprehensively describe the main features of both X-linked epileptic syndromes thoroughly characterized to date (PCDH19-related DEE, CDKL5-related DEE, MECP2-related disorders), forms of epilepsy related to X-linked neuronal migration disorders (e.g., ARX, DCX …
In this review, we comprehensively describe the main features of both X-linked epileptic syndromes thoroughly characterized to date (PCDH19- …
Focal cortical dysplasia: Updates.
Pinheiro J, Honavar M. Pinheiro J, et al. Indian J Pathol Microbiol. 2022 May;65(Supplement):S189-S197. doi: 10.4103/ijpm.ijpm_1226_21. Indian J Pathol Microbiol. 2022. PMID: 35562149 Free article. Review.
The newly described mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy, has been found to show recurrent pathogenic variants in SLC35A2 with mosaicism. The present review describes the lesions of FCD and discusses the molecular pathogen …
The newly described mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy, has been found to show recurren …
Focal cortical dysplasia: a practical guide for neurologists.
Balestrini S, Barba C, Thom M, Guerrini R. Balestrini S, et al. Pract Neurol. 2023 Aug;23(4):293-302. doi: 10.1136/pn-2022-003404. Epub 2023 Feb 23. Pract Neurol. 2023. PMID: 36823117 Review.
Mild malformation with oligodendroglial hyperplasia in epilepsy is caused by somatic pathogenic SLC35A2 mutations. FCDs most often present with drug-resistant focal epilepsy or epileptic encephalopathy. ...
Mild malformation with oligodendroglial hyperplasia in epilepsy is caused by somatic pathogenic SLC35A2 mutations. FCDs most often pr …
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.
Baldassari S, Ribierre T, Marsan E, Adle-Biassette H, Ferrand-Sorbets S, Bulteau C, Dorison N, Fohlen M, Polivka M, Weckhuysen S, Dorfmüller G, Chipaux M, Baulac S. Baldassari S, et al. Acta Neuropathol. 2019 Dec;138(6):885-900. doi: 10.1007/s00401-019-02061-5. Epub 2019 Aug 23. Acta Neuropathol. 2019. PMID: 31444548 Free PMC article.
Somatic loss-of-function variants in the N-glycosylation pathway-associated SLC35A2 gene were found in mMCD/FCD1 cases. Somatic gain-of-function variants in MTOR and its activators (AKT3, PIK3CA, RHEB), as well as germline, somatic and two-hit loss-of-function variants in …
Somatic loss-of-function variants in the N-glycosylation pathway-associated SLC35A2 gene were found in mMCD/FCD1 cases. Somatic gain- …
SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamics.
Lai D, Sosicka P, Williams DJ, Bowyer ME, Ressler AK, Kohrt SE, Muron SJ, Crino PB, Freeze HH, Boland MJ, Heinzen EL. Lai D, et al. Brain. 2025 Dec 4;148(12):4259-4274. doi: 10.1093/brain/awaf198. Brain. 2025. PMID: 40418734 Free PMC article.
SLC35A2 encodes a uridine diphosphate (UDP)-galactose transporter essential for glycosylation of proteins and galactosylation of lipids and glycosaminoglycans. Germline genetic SLC35A2 variants have been identified in congenital disorders of glycosylation and somati …
SLC35A2 encodes a uridine diphosphate (UDP)-galactose transporter essential for glycosylation of proteins and galactosylation of lipi …
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.
Pathogenic variants in 10 focal epilepsy genes were found in 48 of 178 (27%) FCDI/mild MCD/mMCD with oligodendroglial hyperplasia and epilepsy cases; 36 of these (75%) were SLC35A2 variants. Six of 69 (9%) patients without a histopathological lesion had a pathogenic varian …
Pathogenic variants in 10 focal epilepsy genes were found in 48 of 178 (27%) FCDI/mild MCD/mMCD with oligodendroglial hyperplasia and epilep …
Solute Carrier Family 35 A2 (SLC35A2) Promotes Tumor Progression through MYC-Mediated Pathways in Colorectal Cancer.
Tsai KY, Wei PL, Lee CC, Zumbi CN, Prince GMSH, Batzorig U, Huang CY, Chang YJ. Tsai KY, et al. Int J Med Sci. 2025 Mar 29;22(9):1992-2009. doi: 10.7150/ijms.109767. eCollection 2025. Int J Med Sci. 2025. PMID: 40303483 Free PMC article.
Furthermore, our CRC cell models revealed the tumor-promoting role of SLC35A2 and discovered that the upregulation of SLC35A2 is associated with chemoresistance against irinotecan. ...This suggests the immunomodulatory role of SLC35A2. In summary, SLC35A2 …
Furthermore, our CRC cell models revealed the tumor-promoting role of SLC35A2 and discovered that the upregulation of SLC35A2 …
Host cell glycosylation selects for infection with CCR5- versus CXCR4-tropic HIV-1.
Itell HL, Guenthoer J, Humes D, Baumgarten NE, Overbaugh J. Itell HL, et al. Nat Microbiol. 2024 Nov;9(11):2985-2996. doi: 10.1038/s41564-024-01806-7. Epub 2024 Oct 3. Nat Microbiol. 2024. PMID: 39363105 Free PMC article.
Here we conduct CRISPR-Cas9 screens and identify SLC35A2 (a transporter of UDP-galactose expressed in target cells in blood and mucosa) as a potent and specific CXCR4-tropic restriction factor in primary target CD4(+) T cells. SLC35A2 inactivation, which resulted in …
Here we conduct CRISPR-Cas9 screens and identify SLC35A2 (a transporter of UDP-galactose expressed in target cells in blood and mucos …
Genetic heterogeneity in infantile spasms.
Muir AM, Myers CT, Nguyen NT, Saykally J, Craiu D, De Jonghe P, Helbig I, Hoffman-Zacharska D, Guerrini R, Lehesjoki AE, Marini C, Møller RS, Serratosa J, Štěrbová K, Striano P, von Spiczak S, Weckhuysen S, Mefford HC; EuroEPINOMICS-RES NLES working group, Sarah Weckhuysen. Muir AM, et al. Epilepsy Res. 2019 Oct;156:106181. doi: 10.1016/j.eplepsyres.2019.106181. Epub 2019 Jul 29. Epilepsy Res. 2019. PMID: 31394400 Free PMC article.
We identified a genetic diagnosis for 7.6% of our cohort, including pathogenic variants in KCNB1 (n = 2), GNAO1 (n = 1), STXBP1 (n = 1), SLC35A2 (n = 1), TBL1XR1 (n = 1), and KIF1A (n = 1). Our data emphasize the genetic heterogeneity of IS and will inform the diagnosis an …
We identified a genetic diagnosis for 7.6% of our cohort, including pathogenic variants in KCNB1 (n = 2), GNAO1 (n = 1), STXBP1 (n = 1), …
Biallelic variants identified in 36 Pakistani families and trios with autism spectrum disorder.
Khan H, Harripaul R, Mikhailov A, Herzi S, Bowers S, Ayub M, Shabbir MI, Vincent JB. Khan H, et al. Sci Rep. 2024 Apr 22;14(1):9230. doi: 10.1038/s41598-024-57942-x. Sci Rep. 2024. PMID: 38649688 Free PMC article.
Here we report the identification of sixteen rare or novel coding variants in fifteen genes (ARAP1, CDKL5, CSMD2, EFCAB12, EIF3H, GML, NEDD4, PDZD4, POLR3G, SLC35A2, TMEM214, TMEM232, TRANK1, TTC19, and ZNF292) in affected members in eight of the families, including ten ho …
Here we report the identification of sixteen rare or novel coding variants in fifteen genes (ARAP1, CDKL5, CSMD2, EFCAB12, EIF3H, GML, NEDD4 …
61 results