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The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission.
Najm I, Lal D, Alonso Vanegas M, Cendes F, Lopes-Cendes I, Palmini A, Paglioli E, Sarnat HB, Walsh CA, Wiebe S, Aronica E, Baulac S, Coras R, Kobow K, Cross JH, Garbelli R, Holthausen H, Rössler K, Thom M, El-Osta A, Lee JH, Miyata H, Guerrini R, Piao YS, Zhou D, Blümcke I. Najm I, et al. Epilepsia. 2022 Aug;63(8):1899-1919. doi: 10.1111/epi.17301. Epub 2022 Jun 15. Epilepsia. 2022. PMID: 35706131 Free PMC article.
The literature confirmed new molecular-genetic characterizations involving the mechanistic Target Of Rapamycin (mTOR) pathway in FCD type II (FCDII), and SLC35A2 in mild malformations of cortical development (mMCDs) with oligodendroglial hyperplasia (MOGHE). ...
The literature confirmed new molecular-genetic characterizations involving the mechanistic Target Of Rapamycin (mTOR) pathway in FCD type II …
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 …
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- …
SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE.
Elziny S, Crino PB, Winawer M. Elziny S, et al. Neurobiol Dis. 2023 Oct 15;187:106299. doi: 10.1016/j.nbd.2023.106299. Epub 2023 Sep 20. Neurobiol Dis. 2023. PMID: 37739137 Free PMC article. Review.
In 2018, we reported somatic mutations in Solute Carrier Family 35 member A2 (SLC35A2) linked to DRE underlying FCD type I and subsequently to a new histopathological phenotype: excess oligodendrocytes and heterotopic neurons in subcortical white matter known as MOGHE (mil …
In 2018, we reported somatic mutations in Solute Carrier Family 35 member A2 (SLC35A2) linked to DRE underlying FCD type I and subseq …
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- …
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
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 …
Human brain tissue with MOGHE carrying somatic SLC35A2 variants reveal aberrant protein expression and protein loss in the white matter.
Cecchini E, Geffers S, Coras R, Schultheis D, Holtzhausen C, Karandasheva K, Herrmann H, Paulsen F, Stadelmann C, Kobow K, Hartlieb T, Bien CG, Lal D, Blumcke I, Hoffmann L. Cecchini E, et al. Acta Neuropathol. 2025 Mar 5;149(1):23. doi: 10.1007/s00401-025-02858-7. Acta Neuropathol. 2025. PMID: 40042641 Free PMC article.
To investigate the impact of SLC35A2 variants on protein expression, we analysed MOGHE brain tissue with and without SLC35A2 mosaicism, distinguishing missense from nonsense variants. ...The cohort included 13 individuals with SLC35A2 missense variants and 15 …
To investigate the impact of SLC35A2 variants on protein expression, we analysed MOGHE brain tissue with and without SLC35A2 m …
Comprehensive analysis of 33 human cancers reveals clinical implications and immunotherapeutic value of the solute carrier family 35 member A2.
Xu S, Chen X, Fang J, Chu H, Fang S, Zeng L, Ma H, Zhang T, Chen Y, Wang T, Zhang X, Shen T, Zheng Y, Xu D, Lu Z, Pan Y, Liu Y. Xu S, et al. Front Immunol. 2023 May 18;14:1155182. doi: 10.3389/fimmu.2023.1155182. eCollection 2023. Front Immunol. 2023. PMID: 37275857 Free PMC article.
However, the function of SLC35A2 across human cancers remains to be systematically assessed. Insights into the prediction ability of SLC35A2 in clinical practice and immunotherapy response remains limited. ...The upregulated SLC35A2 in five cancer types indic …
However, the function of SLC35A2 across human cancers remains to be systematically assessed. Insights into the prediction ability of …
D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery.
Aledo-Serrano Á, Valls-Carbó A, Fenger CD, Groeppel G, Hartlieb T, Pascual I, Herraez E, Cabal B, García-Morales I, Toledano R, Budke M, Beltran-Corbellini Á, Baldassari S, Coras R, Kobow K, Herrera DM, Del Barrio A, Dahl HA, Del Pino I, Baulac S, Blumcke I, Møller RS, Gil-Nagel A. Aledo-Serrano Á, et al. Neurotherapeutics. 2023 Sep;20(5):1294-1304. doi: 10.1007/s13311-023-01395-z. Epub 2023 Jun 6. Neurotherapeutics. 2023. PMID: 37278968 Free PMC article.
Approximately half of the patients with histopathologically confirmed MOGHE carry a brain somatic variant in the SLC35A2 gene encoding a UDP-galactose transporter. Previous research showed that D-galactose supplementation results in clinical improvement in patients with a …
Approximately half of the patients with histopathologically confirmed MOGHE carry a brain somatic variant in the SLC35A2 gene encodin …
83 results