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Biomarker development in Sturge-Weber syndrome / Siddharth S. GUPTA in Journal of Neurodevelopmental Disorders, 17 (2025)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 17 (2025) Titre : Biomarker development in Sturge-Weber syndrome Type de document : texte imprimé Auteurs : Siddharth S. GUPTA, Auteur ; Katharine E. JOSLYN, Auteur ; Kieran D. MCKENNEY, Auteur ; Anne M. COMI, Auteur Langues : Anglais (eng) Mots-clés : Humans  Sturge-Weber Syndrome/diagnosis/genetics/metabolism  Biomarkers/metabolism  Biomarker  EEG biomarkers  Gnaq  Mri  Neurocutaneous syndrome  Neuroimaging biomarkers  Qeeg  Sturge-Weber syndrome  Urine angiogenic factor  Vascular biomarkers  for publication: Not applicable. Competing interests: A.M.C. is an inventor on  patents related to the R183Q GNAQ mutation in SWS and to the use of cannabidiol  for the treatment of SWS  no funding has been received by her from these patents.  The remaining authors have no conflicts of interest to disclose. Index. décimale : PER Périodiques Résumé : Sturge-Weber Syndrome (SWS) is a congenital neurovascular disorder caused by a somatic mosaic mutation in the R183Q GNAQ gene and characterized by capillary-venous malformations of the brain, skin, and eyes. Clinical manifestations include facial port-wine birthmark, glaucoma, seizures, headache or migraine, hemiparesis, stroke or stroke-like episodes, developmental delay, behavioral problems, and hormonal deficiencies. SWS requires careful monitoring, management, and early identification to improve outcome and prevent neurological deterioration. Over the last 25 years, biomarkers have been developed to improve early diagnosis and prognosis and allow for the monitoring of clinical status and treatment response. Importantly, advancements in biomarker research may enable presymptomatic treatment for infants with SWS. This review summarizes current, ongoing, and potential future SWS biomarker studies. These biomarkers, in combination with clinical data, offer a rich source of data for rare disease research leveraging machine learning in future research. En ligne : https://dx.doi.org/10.1186/s11689-025-09640-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576 [article] Biomarker development in Sturge-Weber syndrome [texte imprimé] / Siddharth S. GUPTA, Auteur ; Katharine E. JOSLYN, Auteur ; Kieran D. MCKENNEY, Auteur ; Anne M. COMI, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 17 (2025) Mots-clés : Humans  Sturge-Weber Syndrome/diagnosis/genetics/metabolism  Biomarkers/metabolism  Biomarker  EEG biomarkers  Gnaq  Mri  Neurocutaneous syndrome  Neuroimaging biomarkers  Qeeg  Sturge-Weber syndrome  Urine angiogenic factor  Vascular biomarkers  for publication: Not applicable. Competing interests: A.M.C. is an inventor on  patents related to the R183Q GNAQ mutation in SWS and to the use of cannabidiol  for the treatment of SWS  no funding has been received by her from these patents.  The remaining authors have no conflicts of interest to disclose. Index. décimale : PER Périodiques Résumé : Sturge-Weber Syndrome (SWS) is a congenital neurovascular disorder caused by a somatic mosaic mutation in the R183Q GNAQ gene and characterized by capillary-venous malformations of the brain, skin, and eyes. Clinical manifestations include facial port-wine birthmark, glaucoma, seizures, headache or migraine, hemiparesis, stroke or stroke-like episodes, developmental delay, behavioral problems, and hormonal deficiencies. SWS requires careful monitoring, management, and early identification to improve outcome and prevent neurological deterioration. Over the last 25 years, biomarkers have been developed to improve early diagnosis and prognosis and allow for the monitoring of clinical status and treatment response. Importantly, advancements in biomarker research may enable presymptomatic treatment for infants with SWS. This review summarizes current, ongoing, and potential future SWS biomarker studies. These biomarkers, in combination with clinical data, offer a rich source of data for rare disease research leveraging machine learning in future research. En ligne : https://dx.doi.org/10.1186/s11689-025-09640-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=576