Aledo-Serrano Á, Valls-Carbó A, Fenger CD, Groeppel G, Hartlieb T, Pascual I et al (2023) 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. Neurotherapeutics 20:1294–1304. https://doi.org/10.1007/s13311-023-01395-z

Article  CAS  PubMed  PubMed Central  Google Scholar 

Anlar B, Gunel-Ozcan A (2012) Tenascin-R: role in the central nervous system. Int J Biochem Cell Biol 44:1385–1389. https://doi.org/10.1016/j.biocel.2012.05.009

Article  CAS  PubMed  Google Scholar 

Aoki K, Ishida N, Kawakita M (2003) Substrate recognition by nucleotide sugar transporters: further characterization of substrate recognition regions by analyses of UDP-galactose/CMP-sialic acid transporter chimeras and biochemical analysis of the substrate specificity of parental and chimeric transporters. J Biol Chem 278:22887–22893. https://doi.org/10.1074/jbc.M302620200

Article  CAS  PubMed  Google Scholar 

Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L et al (2023) Clinical features, neuropathology, and surgical outcome in patients with refractory epilepsy and brain somatic variants in the SLC35A2 gene. Neurology 100:e528–e542. https://doi.org/10.1212/wnl.0000000000201471

Article  CAS  PubMed  PubMed Central  Google Scholar 

Barkovich AJ, Guerrini R, Kuzniecky RI, Jackson GD, Dobyns WB (2012) A developmental and genetic classification for malformations of cortical development: update 2012. Brain 135:1348–1369. https://doi.org/10.1093/brain/aws019

Article  PubMed  PubMed Central  Google Scholar 

Bonduelle T, Hartlieb T, Baldassari S, Sim NS, Kim SH, Kang HC et al (2021) Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE). Acta Neuropathol Commun 9:3. https://doi.org/10.1186/s40478-020-01085-3

Article  CAS  PubMed  PubMed Central  Google Scholar 

Elziny S, Sran S, Yoon H, Corrigan RR, Page J, Ringland A, Lanier A, Lapidus S, Foreman J, Heinzen ELet al (2023) Loss of Slc35a2 alters development of the mouse cerebral cortex. bioRxiv: https://doi.org/10.1101/2023.11.29.569243

Gaballa A, Woermann FG, Cloppenborg T, Kalbhenn T, Blümcke I, Bien CG et al (2021) Clinical characteristics and postoperative seizure outcome in patients with mild malformation of cortical development and oligodendroglial hyperplasia. Epilepsia 62:2920–2931. https://doi.org/10.1111/epi.17084

Article  PubMed  Google Scholar 

Haenisch C, Diekmann H, Klinger M, Gennarini G, Kuwada JY, Stuermer CA (2005) The neuronal growth and regeneration associated Cntn1 (F3/F11/Contactin) gene is duplicated in fish: expression during development and retinal axon regeneration. Mol Cell Neurosci 28:361–374. https://doi.org/10.1016/j.mcn.2004.04.013

Article  CAS  PubMed  Google Scholar 

Hartlieb T, Winkler P, Coras R, Pieper T, Holthausen H, Blümcke I et al (2019) Age-related MR characteristics in mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy (MOGHE). Epilepsy Behav 91:68–74. https://doi.org/10.1016/j.yebeh.2018.07.009

Article  PubMed  Google Scholar 

Huang W, Bhaduri A, Velmeshev D, Wang S, Wang L, Rottkamp CA et al (2020) Origins and proliferative states of human oligodendrocyte precursor cells. Cell 182:594-608.e511. https://doi.org/10.1016/j.cell.2020.06.027

Article  CAS  PubMed  PubMed Central  Google Scholar 

Karus M, Ulc A, Ehrlich M, Czopka T, Hennen E, Fischer J et al (2016) Regulation of oligodendrocyte precursor maintenance by chondroitin sulphate glycosaminoglycans. Glia 64:270–286. https://doi.org/10.1002/glia.22928

Article  PubMed  Google Scholar 

Kodera H, Nakamura K, Osaka H, Maegaki Y, Haginoya K, Mizumoto S et al (2013) De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat 34:1708–1714. https://doi.org/10.1002/humu.22446

Article  CAS  PubMed  Google Scholar 

Kodríková R, Pakanová Z, Krchňák M, Šedivá M, Šesták S, Květoň F et al (2023) N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant. Biomedicines. https://doi.org/10.3390/biomedicines11020580

Article  PubMed  PubMed Central  Google Scholar 

Liang S, Tang Q, et al. Mutant glycosidases for labeling sialoglycans with high specificity and affinity. In revision

Liu J, Cheng B, Fan X, Zhou X, Wang J, Zhou W et al (2023) Click-iG: simultaneous enrichment and profiling of intact N-linked, O-GalNAc, and O-GlcNAcylated glycopeptides. Angew Chem Int Ed Engl 62:e202303410. https://doi.org/10.1002/anie.202303410

Article  CAS  PubMed  Google Scholar 

Liu X, Zhu Y, Liu Q, Zhang S, Wu P, Sun Y et al (2023) Clinical characteristics and surgical outcomes in children with mild malformation of cortical development and oligodendroglial hyperplasia in epilepsy. Epilepsia Open 8:898–911. https://doi.org/10.1002/epi4.12755

Article  PubMed  PubMed Central  Google Scholar 

Luccardini C, Hennekinne L, Viou L, Yanagida M, Murakami F, Kessaris N et al (2013) N-cadherin sustains motility and polarity of future cortical interneurons during tangential migration. J Neurosci 33:18149–18160. https://doi.org/10.1523/jneurosci.0593-13.2013

Article  CAS  PubMed  PubMed Central  Google Scholar 

Maness PF, Schachner M (2007) Neural recognition molecules of the immunoglobulin superfamily: signaling transducers of axon guidance and neuronal migration. Nat Neurosci 10:19–26. https://doi.org/10.1038/nn1827

Article  CAS  PubMed  Google Scholar 

Medina-Cano D, Ucuncu E, Nguyen LS, Nicouleau M, Lipecka J, Bizot JC et al (2018) High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect. Elife. https://doi.org/10.7554/eLife.38309

Article  PubMed  PubMed Central  Google Scholar 

Mendes Coelho VC, Morita-Sherman M, Yasuda CL, Alvim MMK, Amorim BJ, Tedeschi H et al (2021) Magnetic resonance imaging findings and clinical characteristics in mild malformation of cortical development with oligodendroglial hyperplasia and epilepsy in a predominantly adult cohort. Epilepsia 62:1429–1441. https://doi.org/10.1111/epi.16907

Article  PubMed  Google Scholar 

Miller KE, Koboldt DC, Schieffer KM, Bedrosian TA, Crist E, Sheline A et al (2020) Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue. Neurol Genet 6:e460. https://doi.org/10.1212/nxg.0000000000000460

Article  PubMed  PubMed Central  Google Scholar 

Najm I, Lal D, Alonso Vanegas M, Cendes F, Lopes-Cendes I, Palmini A et al (2022) The ILAE consensus classification of focal cortical dysplasia: an update proposed by an ad hoc task force of the ILAE diagnostic methods commission. Epilepsia 63:1899–1919. https://doi.org/10.1111/epi.17301

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R et al (2019) SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Hum Mutat 40:908–925. https://doi.org/10.1002/humu.23731

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rouhanifard SH, López-Aguilar A, Wu P (2014) CHoMP: a chemoenzymatic histology method using clickable probes. Chembiochem Eur J Chem Biol 15:2667–2673. https://doi.org/10.1002/cbic.201402433

Article  CAS  Google Scholar 

Schurr J, Coras R, Rössler K, Pieper T, Kudernatsch M, Holthausen H et al (2017) Mild malformation of cortical development with oligodendroglial hyperplasia in frontal lobe epilepsy: a new clinico-pathological entity. Brain Pathol 27:26–35. https://doi.org/10.1111/bpa.12347

Article  CAS  PubMed  Google Scholar 

Sim NS, Seo Y, Lim JS, Kim WK, Son H, Kim HD et al (2018) Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation. Neurol Genet 4:e294. https://doi.org/10.1212/nxg.0000000000000294

Article  CAS  PubMed  PubMed Central  Google Scholar 

Smith RD, Lupashin VV (2008) Role of the conserved olig