Research & Literature

A case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy.

Kimizu T, Takahashi Y, Oboshi T, et al.

Brain & development 2017; (39(3)):256-260 doi:10.1016/j.braindev.2016.09.009.

Nonconvulsive status epilepticus after cessation of convulsive status epilepticus in pediatric intensive care unit patients.

Chen J, Xie L, Hu Y, et al.

Epilepsy & behavior : E&B 2018; (82()):68-73 doi:10.1016/j.yebeh.2018.02.008.

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.

Westenfield K, Sarafoglou K, Speltz LC, et al.

BMC medical genetics 2018; (19(1)):100 doi:10.1186/s12881-018-0617-6.

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.

Yates TM, Suri M, Desurkar A, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018; (22(6)):1095-1102 doi:10.1016/j.ejpn.2018.08.002.

Brain somatic mutations in SLC35A2 cause intractable epilepsy with aberrant N-glycosylation.

Sim NS, Seo Y, Lim JS, et al.

Neurology. Genetics 2018; (4(6)):e294 doi:10.1212/NXG.0000000000000294.

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Vals MA, Ashikov A, Ilves P, et al.

Journal of inherited metabolic disease 2019; (42(3)):553-564 doi:10.1002/jimd.12055.

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Ng BG, Sosicka P, Agadi S, et al.

Human mutation 2019; (40(7)):908-925 doi:10.1002/humu.23731.

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination.

Miyamoto S, Nakashima M, Ohashi T, et al.

Molecular genetics & genomic medicine 2019; (7(8)):e814 doi:10.1002/mgg3.814.

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.

Witters P, Tahata S, Barone R, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(6)):1102-1107 doi:10.1038/s41436-020-0767-8.

[Clinical characteristics of SLC35A2 gene variants related congenital disorders of glycosylation typeⅡ].

Lang CH, Yang Y, Niu XY, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2020; (58(7)):586-590 doi:10.3760/cma.j.cn112140-20200308-00198.

Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue.

Miller KE, Koboldt DC, Schieffer KM, et al.

Neurology. Genetics 2020; (6(4)):e460 doi:10.1212/NXG.0000000000000460.

Generalized convulsive status epilepticus after retrograde type A aortic dissection surgery.

Li Y, Wu Q, Shi H, et al.

Perfusion 2021; (36(3)):318-321 doi:10.1177/0267659120943158.

Electroencephalographic Seizures in Emergency Department Patients After Treatment for Convulsive Status Epilepticus.

Zehtabchi S, Silbergleit R, Chamberlain JM, et al.

Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society 2022; (39(6)):441-445 doi:10.1097/WNP.0000000000000800.

Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).

Bonduelle T, Hartlieb T, Baldassari S, et al.

Acta neuropathologica communications 2021; (9(1)):3 doi:10.1186/s40478-020-01085-3.

Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.

Starosta RT, Boyer S, Tahata S, et al.

Orphanet journal of rare diseases 2021; (16(1)):20 doi:10.1186/s13023-020-01630-2.

SLC35A2-CDG: Novel variant and review.

Quelhas D, Correia J, Jaeken J, et al.

Molecular genetics and metabolism reports 2021; (26()):100717 doi:10.1016/j.ymgmr.2021.100717.

Four New Cases of SLC35A2-CDG With Novel Mutations and Clinical Features.

Abuduxikuer K, Wang JS

Frontiers in genetics 2021; (12()):658786 doi:10.3389/fgene.2021.658786.

Nutrition interventions in congenital disorders of glycosylation.

Boyer SW, Johnsen C, Morava E

Trends in molecular medicine 2022; (28(6)):463-481 doi:10.1016/j.molmed.2022.04.003.

Current Management of Generalized Convulsive Status Epilepticus in Children.

Aulická Š

Children (Basel, Switzerland) 2022; (9(10)) doi:10.3390/children9101586.

Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.

Barba C, Blumcke I, Winawer MR, et al.

Neurology 2023; (100(5)):e528-e542 doi:10.1212/WNL.0000000000201471.

West Syndrome and the Importance of Routine Physical Examinations and Parental Education: A Case Report.

Dias Freitas F, Cavaco Raposo S, Luis Nogueira A

Cureus 2022; (14(11)):e31848 doi:10.7759/cureus.31848.

N-Glycoprofiling of SLC35A2-CDG: Patient with a Novel Hemizygous Variant.

Kodríková R, Pakanová Z, Krchňák M, et al.

Biomedicines 2023; (11(2)) doi:10.3390/biomedicines11020580.

Brain somatic mosaicism in epilepsy: Bringing results back to the clinic.

D'Gama AM, Poduri A

Neurobiology of disease 2023; (181()):106104 doi:10.1016/j.nbd.2023.106104.

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, et al.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2023; (20(5)):1294-1304 doi:10.1007/s13311-023-01395-z.

Somatic variants in SLC35A2 leading to defects in N-glycosylation in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).

Liu X, Tang Q, Xia X, et al.

Acta neuropathologica 2025; (149(1)):13 doi:10.1007/s00401-025-02850-1.

Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation.

Jáñez Pedrayes A, De Craemer S, Idkowiak J, et al.

Cellular and molecular life sciences : CMLS 2025; (82(1)):257 doi:10.1007/s00018-025-05759-w.

Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): genetics, mechanisms and precision therapy.

Spyrou J, Lockhart PJ, Maljevic S, et al.

Acta neuropathologica 2026; (152(1)).