The following 51 articles have been made available to us but will need requesting individually if you require a copy. We will ensure the article/articles are emailed to you. Please email support@sturgeweber.org.uk stating which articles you would like copies of.
1: McKay SG, Chen Y, Haacke EM, Xuan Y, Luat AF, Juhász C. Clinical Validation of a Fast MRI Method to Evaluate Brain Vascular and Parenchymal Abnormalities in Sturge-Weber Syndrome. J Magn Reson Imaging. 2025 Dec 30. doi:10.1002/jmri.70222. Epub ahead of print. PMID: 41467540.
2: Solomon CR, McCann M, Singh P, Nemeth CL, Comi A. R183Q GNAQ Sturge-Weber syndrome Leptomeningeal and Cerebrovascular Developmental Mouse Model. J Vasc Anom (Phila). 2024 Dec;5(4):e099. doi: 10.1097/jova.0000000000000099. Epub 2024Sep 30. PMID: 41415885; PMCID: PMC12711316.
3: Rai B, Chaudhari B, Abubaker E, Jaradat S, Nandish S. Longitudinal Neuroimaging of a Pediatric Patient With Sturge-Weber Syndrome: From Birth to Adolescence. Cureus. 2025 Oct 30;17(10):e95748. doi: 10.7759/cureus.95748. PMID: 41322877; PMCID: PMC12664325.
4: Abbas K, Harrison B, Peter Chang TC, Edmunds B, Hammond B, Lueder GT, NischalKK, Mills MD, Walton DS, Blieden LS, Freedman SF, Plager DA, Wirostko BM, LevinAV. Glaucoma Management in Sturge-Weber Syndrome Using the Delphi Process. Ophthalmol Glaucoma. 2025 Nov 26: S2589-4196(25)00242-X. doi:10.1016/j.ogla.2025.11.003. Epub ahead of print. PMID: 41314339.
5: Nasim S, Baig M, Wylie-Sears J, Vivero MP, Smits P, Holm A, Marrs L, Cheng YS, Alves C, Pinto A, Greene AK, Bischoff J. MAPK signaling and angiopoietin-2 contribute to endothelial permeability in capillary malformations. Proc Natl Acad Sci U S A. 2025 Nov 25;122(47):e2509528122. doi: 10.1073/pnas.2509528122.Epub 2025 Nov 19. PMID: 41259140; PMCID: PMC12664009.
6: Kumari S, Tomar V, Dadeya S. The painful signature of Sturge-Weber. Clin Exp Optom. 2025 Oct 30:1-3. doi: 10.1080/08164622.2025.2580580. Epub ahead of print. PMID: 41166746.
7: Cerron-Vela CR, Manteghinejad A, Andronikou S. Beyond the leptomeningeal angioma: a comprehensive review of MR imaging features of Sturge-Weber Syndrome, from early vascular responses to tissue necrosis. Pediatr Radiol. 2025Dec;55(13):2704-2715. doi: 10.1007/s00247-025-06402-3. Epub 2025 Oct 25. PMID:41137931; PMCID: PMC12708714.
8: Di Pippo M, Rullo D, Ciancimino C, Grassi F, Ferretti A, Parisi P, Di Nardo G, Orsini A, Perulli M, Battaglia DI, Nicodemi EM, Abdolrahimzadeh S. Advancing Non-Invasive Ophthalmic Imaging in Sturge-Weber Syndrome: Clinical Guidelines Towards Early Choroidal Hemangioma Detection. J Clin Med. 2025 Oct3;14(19):7012. doi: 10.3390/jcm14197012. PMID: 41096092; PMCID: PMC12524537.
9: Mologousis MA, Bitar RA, Pinto AL, Rispoli JM, Liang MG. Early Magnetic Resonance Imaging as a Screen for Sturge-Weber Syndrome-Related Seizures in Infants With Upper-Facial Capillary Malformations. Pediatr Dermatol. 2026 Jan-Feb;43(1):56-63. doi: 10.1111/pde.70032. Epub 2025 Oct 13. PMID: 41084097.
10: Li Y, Hu X, Chen X, Cheng Y, Jiang Y, Wang X. Progress in genetic mechanisms and precise treatment of neurocutaneous syndrome-related epilepsy. Front Neurol.2025 Sep 5; 16:1642299. doi: 10.3389/fneur.2025.1642299. PMID: 40979205; PMCID: PMC12447324.
11: Shinde SV, Bhavsar NV. Intraoral capillary hemangioma in Sturge-Weber syndrome – A rare case report and its periodontal management. J Indian Soc Periodontol. 2025 Mar-Apr;29(2):198-202. doi: 10.4103/jisp.jisp_231_24. Epub2025 Aug 19. PMID: 40951758; PMCID: PMC12425270.
12: Gupta SS, Joslyn KE, McKenney KD, Comi AM. Biomarker development in Sturge-Weber syndrome. J Neurodev Disord. 2025 Aug 25;17(1):50. doi:10.1186/s11689-025-09640-6. PMID: 40851064; PMCID: PMC12376483.
13: Onken MD, Makepeace CM, Kaltenbronn KM, Demourelle-Washington M, Piggott KD, Goldfarb D, Kast DJ, Jansen S, Blumer KJ. Inositol (1,4,5)-trisphosphate5-phosphatase promotes survival of uveal melanoma by regulating oncogenic G protein-driven calcium oscillations. J Biol Chem. 2025 Sep;301(9):110589. doi:10.1016/j.jbc.2025.110589. Epub 2025 Aug 12. PMID: 40812428; PMCID: PMC12450637.
14: Iimura Y, Suzuki H, Mitsuhashi T, Ueda T, Nishioka K, Nomura K, Abe S, Ikeno M, Igarashi A, Nakazawa M, Shimada S, Akiba T, Matsuda S, Sugano H, Kondo A. Neurodevelopmental milestone acquisition following early hemispherotomy in Sturge-Weber syndrome. Seizure. 2025 Sep; 131:327-333. doi:10.1016/j.seizure.2025.08.006. Epub 2025 Aug 7. PMID: 40803197.
15: Shukla P, Habiel M. A Case of Congenital Glaucoma in a 5-Year-Old Patient With Sturge-Weber Syndrome and Oculodermal Melanocytosis. Case Rep Ophthalmol Med. 2025 Aug 1; 2025:3902349. doi: 10.1155/crop/3902349. PMID: 40785735; PMCID: PMC12334284.
16: Albazron FM, Haacke EM, Kumar A, Buch S, Xuan Y, Jeong JW, Luat AF, Behen ME, Gjolaj N, Juhász C. Absence of Deep and Basal Veins Is Common and Clinically Relevant in Sturge-Weber Syndrome. Pediatr Neurol. 2025 Oct; 171:63-71. doi:10.1016/j.pediatrneurol.2025.07.009. Epub 2025 Jul 22. PMID: 40782678; PMCID: PMC12762158.
17: Issa NT, Shen T, Vizurraga A, Pronin A, Henry T, Wang Q, Kwarcinski FE, Schürer S, Badiavas E, Tall GG, Slepak VZ. The thiazolidinedione drug troglitazone inhibits Gq signaling through direct binding to the Gq alpha subunit through inhibition of GDP release. Mol Pharmacol. 2025 Aug;107(8):100059. doi: 10.1016/j.molpha.2025.100059. Epub 2025 Jul 5. PMID:40706404; PMCID: PMC12489383.
18: Disse S, Ramantani G, Küpper H, Bock A, Korenke GC, Weidner B, Preisel M, Trollmann R, Wiemer-Kruel A, Wellmann S, Brockmann K, Schroeder S, Meyer S. Sturge Weber syndrome in a multinational pediatric cohort: a systematic analysis of different types. Orphanet J Rare Dis. 2025 Jul 2;20(1):336. doi:10.1186/s13023-025-03769-2. PMID: 40604834; PMCID: PMC12225184.
19: Singh S, Kowe P, Sawatkar GU. Bilateral Sturge-Weber syndrome with soft tissue hypertrophy and trichomegaly. BMJ Case Rep. 2025 May 21;18(5):e265439.doi: 10.1136/bcr-2025-265439. PMID: 40398906.
20: Kelly D, Harvey MM, Allen RA, Ramsey DJ. Sturge-Weber syndrome causing choroidal haemangioma and serous retinal detachment: an overlooked diagnosis in a black patient. BMJ Case Rep. 2025 May 11;18(5):e263609. doi:10.1136/bcr-2024-263609. PMID: 40350172.
21: Wen T, Wang L, Luo H, Tang L. Sturge-Weber syndrome secondary glaucoma: From Pathogenesis to Treatment. Eye Vis (Lond). 2025 Apr 17;12(1):16. doi:10.1186/s40662-025-00432-6. PMID: 40241121; PMCID: PMC12004580.
22: Nasim S, Baig M, Wylie-Sears J, Vivero M, Smits P, Marrs L, Cheng YS, Alves C, Pinto A, Greene AK, Bischoff J. MAPK Signaling and Angiopoietin-2 Contribute to Endothelial Permeability in Capillary Malformations. bioRxiv [Preprint]. 2025Apr 5:2025.03.31.646063. doi: 10.1101/2025.03.31.646063. Update in: Proc Natl Acad Sci U S A. 2025 Nov 25;122(47):e2509528122. doi: 10.1073/pnas.2509528122.PMID: 40235979; PMCID: PMC11996404.
23: Lee V, Girgis RR. The Psychiatric Manifestations of Sturge Weber Syndrome: A Scoping Review. J Child Neurol. 2025 Aug;40(7):566-574. doi:10.1177/08830738251329444. Epub 2025 Apr 15. PMID: 40232279.
24: Duran S, Hasan I, Parsons L, Fang W, Zinn Z. Ethnic disparities in the treatment of port-wine stains in patients with Sturge-Weber syndrome. J Eur Acad Dermatol Venereol. 2025 Oct;39(10):e917-e918. doi: 10.1111/jdv.20645. Epub 2025Mar 17. PMID: 40091761.
25: Disse SC, Küpper H, Bock A, Korenke GC, Ramantani G, Weidner B, Preisel M, Trollmann R, Wiemer-Kruel A, Brockmann K, Schroeder S, Meyer S. The natural history of pediatric Sturge-Weber Syndrome: A multinational cross-sectional study. Eur J Paediatr Neurol. 2025 Jan; 54: 200-209. doi:10.1016/j.ejpn.2025.02.004. Epub 2025 Feb 11. PMID: 39986237.
26: Ai D, Ming T, Li X, Wang S, Bi Z, Zuo J, Cheng Z, Sun W, Xie M, Li F, Wang X, Qi X, Luan G, Ge WP, Guan Y. Transcriptomic Profiling UnveilsEDN3<sup>+</sup> Meningeal Fibroblasts as Key Players in Sturge-Weber Syndrome Pathogenesis. Adv Sci (Weinh). 2025 May;12(17):e2408888. doi:10.1002/advs.202408888. Epub 2025 Feb 8. PMID: 39921427; PMCID: PMC12061316.
27: El Hachem M, Diociaiuti A, Galeotti A, Grussu F, Gusson E, Ferretti A, Marras CE, Vecchio D, Cappelletti S, Severino M, Gandolfo C, Reali S, Longo R, D’Amore C, Gariazzo L, Marraffa F, Ciofi Degli Atti ML, Mancardi MM; and the Sturge-Weber Syndrome Multidisciplinary Group. Multidisciplinary, multicenter consensus for the care of patients affected with Sturge-Weber syndrome. Orphanet J Rare Dis. 2025 Jan 16;20(1):28. doi: 10.1186/s13023-024-03527-w. PMID:39819452; PMCID: PMC11740666.
28: Doucette ML, Hemraj D, Casarett DJ, Macfarlan DL, Fisher E. Use of Cannabis-Based Medical Products for Pediatric Health Conditions: A Systematic Review of the Recent Literature. Med Cannabis Cannabinoids. 2024 Dec 10;7(1):257-267. doi:10.1159/000542550. PMID: 39659365; PMCID: PMC11631168.
29: Zhang D, Sánchez-Espino LF, Ivars M, Pope E, Nopper AJ, Arkin LM, Tollefson MM, Lavarino CE, Muldowney M, Olaciregui NG, Paco S, Drolet BA, Baselga E. Phenotypic Spectrum of GNA11 R183C Mosaicism. Pediatr Dermatol. 2025 May-Jun;42(3):475-480. doi: 10.1111/pde.15802. Epub 2024 Dec 9. PMID: 39654261; PMCID: PMC12118530.
30: Joslyn KE, Truver NF, Comi AM. A Review of Sturge-Weber Syndrome Brain Involvement, Cannabidiol Treatment and Molecular Pathways. Molecules. 2024 Nov8;29(22):5279. doi: 10.3390/molecules29225279. PMID: 39598668; PMCID: PMC11596899.
31: Nasim S, Bichsel C, Pinto A, Alexandrescu S, Kozakewich H, Bischoff J. Similarities and differences between brain and skin GNAQ p.R183Q driven capillary malformations. Angiogenesis. 2024 Nov;27(4):931-941. doi:10.1007/s10456-024-09950-8. Epub 2024 Sep 29. PMID: 39343803.
32: Saini M, Dogra M, Saini K, Jaiswal RK. Resolution of exudative retinal detachment and optic disc edema in a child with Sturge Weber syndrome and congenital cyanotic heart disease after cardiac surgery. Am J Ophthalmol Case Rep. 2024 Aug 30; 36:102147. doi: 10.1016/j.ajoc.2024.102147. PMID: 39319205; PMCID: PMC11419890.
33: Leinonen S, Vuola P, Rice DP, Heliövaara A. Vascular Anomalies and Congenital Infiltrating Lipomatosis May Affect Dental Maturation and Development- a Case Control Study. Cleft Palate Craniofac J. 2025 Nov;62(11):1919-1929. doi: 10.1177/10556656241284761. Epub 2024 Sep 12. PMID: 39267377.
34: Hashmi R, Elmeligy M, Fabian D, Mahtani A, Farid M, Kinfe M, Karroum P, Piccione G, Mahmoud M, Albakri M, Padda I. Exploring the link: Sturge-Weber syndrome and pituitary macroadenomas: A case report and review. Radiol Case Rep.2024 Aug 18;19(11):5007-5012. doi: 10.1016/j.radcr.2024.07.115. PMID: 39247461; PMCID: PMC11378102.
35: Juhász C, Behen ME, Gjolaj N, Luat AF, Xuan Y, Jeong JW. Feasibility and Potential Diagnostic Value of Noncontrast Brain MRI in Nonsedated Children With Sturge-Weber Syndrome and Healthy Siblings. J Child Neurol. 2024Aug;39(9-10):343-353. doi: 10.1177/08830738241272064. Epub 2024 Aug 23. PMID:39175387; PMCID: PMC11500831.
36: Cerron-Vela CR, Manteghinejad A, Clifford SM, Andronikou S. Alternative Venous Pathways: A Potential Key Imaging Feature for Early Diagnosis of Sturge-Weber Syndrome Type 1. AJNR Am J Neuroradiol. 2025 Jan 8;46(1):186-193. doi:10.3174/ajnr.A8426. PMID: 39079712; PMCID: PMC11735450.
37: Ferretti A, Muscianese M, Fanfoni C, Bellone G, Mennini M, Di Nardo G, Abdolrahimzadeh S, De Marco G, Orsini A, Foiadelli T, Frattale I, Valeriani M, Parisi P. Headache in Sturge-Weber syndrome: A systematic review. Cephalalgia.2024 Jul;44(7):3331024241265881. doi: 10.1177/03331024241265881. PMID: 39043228.
38: Comi AM. Time to change our approach to presymptomatic treatment of Sturge-Weber syndrome. Dev Med Child Neurol. 2025 Jan;67(1):13-14. doi:10.1111/dmcn.15982. Epub 2024 Jun 12. PMID: 38867441.
39: Yadav PS, Adhikari P, Mehta B, Khadka S, Bhurtel MR, Dahal A, Acharrya S. Unmasking Sturge-Weber syndrome in adulthood: a case with extrafacial port-wine stain and delayed neurological symptoms. Ann Med Surg (Lond). 2024 Apr15;86(6):3679-3682. doi: 10.1097/MS9.0000000000002049. PMID: 38846877; PMCID:PMC11152852.
40: Naithani R, Joseph S, Sathiamoorthi S, Freedman SF. Unilateral Glaucoma Without Facial Angioma in a Pediatric Patient: A Suspected Sturge-Weber Syndrome Variant. J Pediatr Ophthalmol Strabismus. 2024 May-Jun;61(3):e19-e22. doi:10.3928/01913913-20240301-01. Epub 2024 May 1. PMID: 38788140.
41: Saini L, Mukherjee S, Gunasekaran PK, Saini AG, Ahuja C, Sharawat IK, Sharma R, Bhati A, Suthar R, Sahu JK, Sankhyan N. The profile of epilepsy and its characteristics in children with neurocutaneous syndromes. J Neurosci Rural Pract. 2024 Apr-Jun;15(2):233-237. doi: 10.25259/JNRP_510_2023. Epub 2023 Oct19. PMID: 38746526; PMCID: PMC11090591.
42: Valery CB, Iannotti I, Kossoff EH, Zabel A, Cohen B, Ou Y, Pinto A, Comi AM. Retrospective Analysis of Presymptomatic Treatment In Sturge-Weber Syndrome. Ann Child Neurol Soc. 2024 Mar;2(1):60-72. doi: 10.1002/cns3.20058. Epub 2024 Jan10. PMID: 38745912; PMCID: PMC11090403.
43: Hadjinicolaou A, Quinlan A, Liu S, Zhang B, Takeoka M, Sahin M, Prabhu SP, Pinto AL. Variation in neuroimaging and outcomes in patients with Sturge Weber syndrome Type III. Brain Dev. 2024 Aug;46(7):244-249. doi:10.1016/j.braindev.2024.05.001. Epub 2024 May 12. PMID: 38740533.
44: Sato A, Furusho H, Matsumura T, Nakano M, Sawaki K, Yoshioka Y, Akashi S, Miyauchi M, Mizukawa N, Iida S. Sturge-Weber syndrome with cemento-ossifying fibroma in the maxilla and giant odontoma in the mandible: A case report. Heliyon. 2024 Apr 15;10(8):e29445. doi: 10.1016/j.heliyon.2024.e29445. PMID:38660248; PMCID: PMC11040041.
45: Dingenen E, Segers D, De Maeseneer H, Van Gysel D. Sturge-Weber syndrome: an update for the pediatrician. World J Pediatr. 2024 May;20(5):435-443. doi:10.1007/s12519-024-00809-y. Epub 2024 Apr 24. PMID: 38658498.
46: Kalantary A, Halbert A, Franchina M, Heath Jeffery RC, O’Day R, Chen FK. Oral Sirolimus for Diffuse Choroidal Hemangioma in Sturge-Weber Syndrome. JAMA Ophthalmol. 2024 Jun 1;142(6):585-587. doi: 10.1001/jamaophthalmol.2024.0854.PMID: 38635233.
47: Hammill AM, Boscolo E. Capillary malformations. J Clin Invest. 2024 Apr15;134(8): e172842. doi: 10.1172/JCI172842. PMID: 38618955; PMCID: PMC11014659.
48: Langbroek GB, Stor MLE, Janssen V, de Haan A, Horbach SER, Graupera M, van Noesel CJM, van der Horst CMAM, Wolkerstorfer A, Huveneers S. Characterization of Patient-Derived GNAQ Mutated Endothelial Cells from Capillary Malformations.J Invest Dermatol. 2024 Jun;144(6):1378-1388.e1. doi: 10.1016/j.jid.2023.10.033.Epub 2023 Nov 25. PMID: 38013159.
49: Hadid SA, Noor L, Baer T, Jacobson RI, Brutsaert E. Hypothalamic-pituitary dysfunction in Sturge-Weber syndrome: case report and review of the literature. J Pediatr Endocrinol Metab. 2023 Nov 27;37(1):80-83. doi:10.1515/jpem-2023-0408. PMID: 38006605.
50: Knöpfel N, Zecchin D, Richardson H, Polubothu S, Barberan-Martin S, Cullup T, Gholam K, Heales S, Krywawych S, López-Balboa P, Muwanga-Nanyonjo N, Ogunbiyi O, Puvirajasinghe C, Solman L, Swarbrick K, Syed SB, Tahir Z, Tisdall MM, Allgrove J, Chesover AD, Aylett SE, Jacques TS, Hannan FM, Löbel U, Semple RK, Thakker RV, Kinsler VA. GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification. J Invest Dermatol. 2024Apr;144(4):820-832.e9. doi: 10.1016/j.jid.2023.09.008. Epub 2023 Oct 4. PMID:37802294; PMCID: PMC11139655.
51: Zecchin D, Knöpfel N, Gluck AK, Stevenson M, Sauvadet A, Polubothu S, Barberan-Martin S, Michailidis F, Bryant D, Inoue A, Lines KE, Hannan FM, Semple RK, Thakker RV, Kinsler VA. GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics. J Invest Dermatol. 2024 Apr;144(4):811-819.e4. doi: 10.1016/j.jid.2023.08.028. Epub 2023 Oct 4. PMID:37802293; PMCID: PMC10957341.
