Research & Literature

Megalencephalic leucoencephalopathy with subcortical cysts: subcortical diffuse leucoencephalopathy associated with white matter cystic degeneration.

Dash PK, Raj DH, Sahu H

BMJ case reports 2015; (2015()).

[Identification of a novel MLC1 mutation in a Chinese patient affected with megalencephalic leukoencephalopathy with subcortical cysts].

Chen X, Qu H, Yu T, Luo R

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2016; (33(3)):316-9 doi:10.3760/cma.j.issn.1003-9406.2016.03.008.

Malignant transformation in a case of megalencephalic leukoencephalopathy with subcortical cysts: An extreme rarity in a rare disorder.

Jain RS, Gupta PK, Kumar S, Agrawal R

Annals of Indian Academy of Neurology 2016; (19(2)):242-4 doi:10.4103/0972-2327.173303.

Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research.

Cao B, Yan H, Guo M, et al.

PloS one 2016; (11(6)):e0157258 doi:10.1371/journal.pone.0157258.

The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies.

Wang X, He F, Yin F, et al.

Scientific reports 2016; (6()):35936 doi:10.1038/srep35936.

Megalencephalic leukoencephalopathy with cysts: the Glialcam-null mouse model.

Bugiani M, Dubey M, Breur M, et al.

Annals of clinical and translational neurology 2017; (4(7)):450-465 doi:10.1002/acn3.405.

Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts.

Dubey M, Brouwers E, Hamilton EMC, et al.

Annals of neurology 2018; (83(3)):636-649 doi:10.1002/ana.25190.

Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.

Hamilton EMC, Tekturk P, Cialdella F, et al.

Neurology 2018; (90(16)):e1395-e1403 doi:10.1212/WNL.0000000000005334.

Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit.

Pérez-Rius C, Folgueira M, Elorza-Vidal X, et al.

Orphanet journal of rare diseases 2019; (14(1)):268 doi:10.1186/s13023-019-1248-5.

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

Ashrafi MR, Amanat M, Garshasbi M, et al.

Expert review of neurotherapeutics 2020; (20(1)):65-84 doi:10.1080/14737175.2020.1699060.

A Novel Splice-site Mutation on the MLC1 Gene Leading to Exon 9 Skipping and Megalencephalic Leukoencephalopathy with Subcortical Cysts in a Turkish Patient.

Türkyılmaz A, Ünver O, Ekinci G, Türkdoğan D

Balkan journal of medical genetics : BJMG 2019; (22(2)):89-92 doi:10.2478/bjmg-2019-0019.

[Analysis of a child with megalencephalic leukoencephalopathy with subcortical cyst type 2B caused by HEPACAM variant].

Xu M, Jin B, Guo H

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020; (37(5)):543-546 doi:10.3760/cma.j.issn.1003-9406.2020.05.012.

Cerebellar Astrocyte Transduction as Gene Therapy for Megalencephalic Leukoencephalopathy.

Sánchez A, García-Lareu B, Puig M, et al.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2020; (17(4)):2041-2053 doi:10.1007/s13311-020-00865-y.

Epilepsy in children with leukodystrophies.

Zhang J, Ban T, Zhou L, et al.

Journal of neurology 2020; (267(9)):2612-2618 doi:10.1007/s00415-020-09889-y.

Van der Knaap Disease (Vanishing White Matter) - Unusual Presentation in a Neonate: A Case Report.

Jhancy M, Al Homsi A, Chowdhury F, et al.

Neurology India 2020; (68(3)):669-672 doi:10.4103/0028-3886.289018.

[Megalencephalic leukoencephalopathy with cysts -the clinical importance in the genetic era].

Ballesteros-Cogollos V, Morell-García M, Aleu Pérez-Gramunt M, et al.

Revista de neurologia 2020; (71(10)):373-376 doi:10.33588/rn.7110.2020520.

When the head is big, think this too: Megalencephalic leukoencephalopathy in a toddler with only a large head. A case report.

Chandrasekar S, John J, Satapathy AK, Mahapatro S

Journal of family medicine and primary care 2021; (10(6)):2416-2418 doi:10.4103/jfmpc.jfmpc_2012_20.

Alexander Disease.

Hartog L, Dekeyzer S, Bossche SV

Journal of the Belgian Society of Radiology 2021; (105(1)):61 doi:10.5334/jbsr.2588.

Megalencephalic leukoencephalopathy with subcortical cysts is a developmental disorder of the gliovascular unit.

Gilbert A, Elorza-Vidal X, Rancillac A, et al.

eLife 2021; (10()).

Clinicoradiologic Correlation in 22 Egyptian Children With Megalencephalic Leukoencephalopathy With Subcortical Cysts.

Sadek AA, Aladawy MA, Mansour TMM, et al.

Journal of child neurology 2022; (37(5)):380-389 doi:10.1177/08830738221078683.

Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families.

Khalaf-Nazzal R, Dweikat I, Maree M, et al.

Brain & development 2022; (44(7)):454-461 doi:10.1016/j.braindev.2022.03.009.

Megalencephalic leukoencephalopathy with subcortical cysts: the importance of early diagnosis.

Bravo-Oro A, Reyes-Vaca JG, Noriega-Reyes MF, Esmer C

Boletin medico del Hospital Infantil de Mexico 2022; (79(2)):129-134 doi:10.24875/BMHIM.21000069.

The CaMKII/MLC1 Axis Confers Ca2+-Dependence to Volume-Regulated Anion Channels (VRAC) in Astrocytes.

Brignone MS, Lanciotti A, Michelucci A, et al.

Cells 2022; (11(17)) doi:10.3390/cells11172656.

The Gross, Fine, and Oral Motor Functions in a Patient with Megalencephalic Leukoencephalopathy with Subcortical Cyst: A Case Report.

Sabermoghadam R, Maleki Shahmahmood T, Sarvghadi P, Beiraghi Toosi M

Iranian journal of child neurology 2023; (17(2)):149-161 doi:10.22037/ijcn.v17i1.37156.

Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.

Passchier EMJ, Kerst S, Brouwers E, et al.

Brain : a journal of neurology 2023; (146(8)):3444-3454 doi:10.1093/brain/awad146.

The Effect of Interleukin-1 Antagonists on Brain Volume and Cognitive Function in Two Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts.

Sönmez HE, Savaş M, Aliyeva B, et al.

Pediatric neurology 2023; (144()):72-77 doi:10.1016/j.pediatrneurol.2023.04.008.

Megalencephalic leukoencephalopathy with subcortical cysts protein-1: A new calcium-sensitive protein functionally activated by endoplasmic reticulum calcium release and calmodulin binding in astrocytes.

Brignone MS, Lanciotti A, Molinari P, et al.

Neurobiology of disease 2024; (190()):106388 doi:10.1016/j.nbd.2023.106388.

Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A.

Kaur N, Arora K, Radhakrishnan P, et al.

Neurogenetics 2024; (25(2)):85-91 doi:10.1007/s10048-024-00743-1.

Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.

Passchier EMJ, Bisseling Q, Helman G, et al.

Frontiers in genetics 2024; (15()):1352947 doi:10.3389/fgene.2024.1352947.

Psychotic attack during the clinical course of megalencephalic leukoencephalopathy with subcortical cysts: a case report.

Avşar PA, Akçay E, Gürkaş E

European child & adolescent psychiatry 2025; (34(3)):1075-1080 doi:10.1007/s00787-024-02539-y.

Movement disorders in Megalencephalic Leukoencephalopathy with subcortical cysts - A case series.

Ganguly J, Garg D, Chandarana M, et al.

Parkinsonism & related disorders 2024; (128()):107152 doi:10.1016/j.parkreldis.2024.107152.

Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience.

Sartorelli J, Tonduti D, Ambrosini E, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2026; (47(1)):66 doi:10.1007/s10072-025-08610-z.

Patient and Family Perspectives on Clinical Outcomes in Therapy Trials in Megalencephalic Leukoencephalopathy with Subcortical Cysts: An Open Inventory.

Versaevel NRA, Chapleau A, Topaloğlu P, et al.

Neuropediatrics 2026; (57(3)):186-192 doi:10.1055/a-2851-9956.

Rigorous genetic diagnosis review in natural history studies.

Pizzino A, Arnold K, Wiener E, et al.

Orphanet journal of rare diseases 2026; (21(1)).

Diagnostic Pitfall in Genomic Era: Discordant SMARCA2 Finding in Patient with Megalencephalic Leukoencephalopathy with Subcortical Cysts.

Wang CH, Lin SP, Huang JK, Chiu NC

Diagnostics (Basel, Switzerland) 2026; (16(15)) doi:10.3390/diagnostics16152314.

Van der Knaap Disease Unveiled: A Radiological-Genomic Journey From Seizure to Diagnosis.

Jaiswal M, Yadav A, Goyal BR, et al.

Cureus 2026; (18(7)):e112696 doi:10.7759/cureus.112696.