Observational studyNeurology2018
Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.
Open access · hybridAbstract readMulticenter StudyObservational Study
In one paragraph
Observational study in Neurology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
0numbers the graph read from it
0cells of the map it votes in
35citing papers in PubMed
3.7field-weighted citation impact, top 6% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
35 citing papers in PubMed, 81 citations in OpenAlex.
- Agrawal Disease (Megalencephalic Leukoencephalopathy with Subcortical Cysts): A Rare Neurological Case Report.Annals of African medicine · 2026Article
- Diagnostic Pitfall in Genomic Era: DiscordantDiagnostics (Basel, Switzerland) · 2026Article
- Van der Knaap Disease Unveiled: A Radiological-Genomic Journey From Seizure to Diagnosis.Cureus · 2026Article
- Patient and Family Perspectives on Clinical Outcomes in Therapy Trials in Megalencephalic Leukoencephalopathy with Subcortical Cysts: An Open Inventory.Neuropediatrics · 2026Article
- Megalencephalic leukoencephalopathy with subcortical cysts: a multicenter Italian experience.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Observational
- Article
- Multiple sclerosis: an immune attack on astrocyte-mediated ion and water homeostasis.Nature reviews. Neurology · 2025Review
- Gene therapy rescues brain edema and motor function in a mouse model of megalencephalic leukoencephalopathy with subcortical cysts.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Psychotic attack during the clinical course of megalencephalic leukoencephalopathy with subcortical cysts: a case report.European child & adolescent psychiatry · 2025Article
- Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.Frontiers in genetics · 2024Article
- 3D MR fingerprinting-derived myelin water fraction characterizing brain development and leukodystrophy.Journal of translational medicine · 2023Article
- Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.Brain : a journal of neurology · 2023Article
- The Gross, Fine, and Oral Motor Functions in a Patient with Megalencephalic Leukoencephalopathy with Subcortical Cyst: A Case Report.Iranian journal of child neurology · 2023Article
- The CaMKII/MLC1 Axis Confers CaCells · 2022Article
- GPR37 Receptors and Megalencephalic Leukoencephalopathy with Subcortical Cysts.International journal of molecular sciences · 2022Review
- Novel variants causing megalencephalic leukodystrophy in Sudanese families.Journal of human genetics · 2022Article
- Human iPSC-Derived Astrocytes: A Powerful Tool to Study Primary Astrocyte Dysfunction in the Pathogenesis of Rare Leukodystrophies.International journal of molecular sciences · 2021Review
- Transmembrane topology and oligomeric nature of an astrocytic membrane protein, MLC1.Open biology · 2021Article
- Control of membrane protein homeostasis by a chaperone-like glial cell adhesion molecule at multiple subcellular locations.Scientific reports · 2021Article
- Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins.Human molecular genetics · 2021Article
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 3 countries.
Eline M C HamiltonFrom the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.
Pinar TekturkFrom the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.
Fia CialdellaFrom the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.
Diane F van RappardFrom the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.
Nicole I WolfFrom the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.
Cengiz YalcinkayaFrom the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.
Ümran ÇetinçelikFrom the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.
Ahmad RajaeeFrom the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.
Ariana KariminejadFrom the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.
Justyna PaprockaFrom the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.
Zuhal YapiciFrom the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.
Vlatka Mejaški BošnjakFrom the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands.
Marjo S van der KnaapFrom the Department of Child Neurology and Amsterdam Neuroscience (E.M.C.H., F.C., D.F.v.R., N.I.W., M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Division of Child Neurology, Department of Neurology, Istanbul Faculty of Medicine (P.T., Z.Y.), and Division of Child Neurology, Department of Neurology, Cerrahpasa Medical School (C.Y.), Istanbul University; clinical geneticist in private practice (Ü.Ç.), Merkez Mahallesi, İstanbul, Turkey; Kariminejad-Najmabadi Pathology & Genetics Center (A.R., A.K.), Tehran, Iran; Department of Pediatric Neurology (J.P.), School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland; Department of Neuropediatrics (V.M.B.), Children's Hospital Zagreb, School of Medicine, University of Zagreb, Croatia; and Department of Functional Genomics (M.S.v.d.K.), Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, VU University, Amsterdam, the Netherlands. ms.vanderknaap@vumc.nl.
MLC Research Group
Medical University of Silesia · PLUniversity of Zagreb · HRIstanbul University · TRChildren's Hospital Zagreb · HR
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo provide an overview of clinical and MRI characteristics of the different variants of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) and identify possible differentiating features.
methodsWe performed an international multi-institutional, cross-sectional observational study of the clinical and MRI characteristics in patients with genetically confirmed MLC. Clinical information was obtained by questionnaires for physicians and retrospective chart review.
resultsWe included 204 patients with classic MLC, 187 of whom had recessive mutations in
conclusionClinical and MRI features did not distinguish between classic MLC with
Indexed as
CystsHereditary Central Nervous System Demyelinating DiseasesAdolescentCell Cycle ProteinsCerebral CortexChildChild, PreschoolCross-Sectional StudiesFemaleHumansInternational CooperationMagnetic Resonance ImagingMaleMembrane ProteinsMutationProteinsCell Cycle ProteinsHEPACAM protein, humanMembrane ProteinsMLC1 protein, humanProteins
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