Diverse faces of GNAO1: mild forms in epilepsy and autism.

التفاصيل البيبلوغرافية
العنوان:	Diverse faces of GNAO1: mild forms in epilepsy and autism.
المؤلفون:	Ludlam WG; Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, FL, USA., Soliani L; IRCCS Istituto Delle Scienze Neurologiche Di Bologna UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.; Dipartimento Di Scienze Mediche E Chirurgiche (DIMEC), Università Di Bologna, Bologna, Italy., Domínguez-Carral J; Epilepsy Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Cordelli DM; IRCCS Istituto Delle Scienze Neurologiche Di Bologna UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.; Dipartimento Di Scienze Mediche E Chirurgiche (DIMEC), Università Di Bologna, Bologna, Italy., Marchiani V; IRCCS Istituto Delle Scienze Neurologiche Di Bologna UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy., Gorría-Redondo N; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario de Navarra, Pamplona, Spain.; Navarrabiomed Biomedical Research Center, Pamplona, Spain., Aguilera-Albesa S; Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario de Navarra, Pamplona, Spain.; Navarrabiomed Biomedical Research Center, Pamplona, Spain., Martemyanov KA; Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, FL, USA. kmartemyanov@ufl.edu.; Department of Neuroscience, The Scripps Research Institute, Jupiter, FL, 33458, USA. kmartemyanov@ufl.edu., Ortigoza-Escobar JD; Movement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. juandario.ortigoza@sjd.es.; U-703 Center for Biomedical Research On Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain. juandario.ortigoza@sjd.es.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain. juandario.ortigoza@sjd.es.; Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Passeig Sant Joan de Déu 2, 08950, Barcelona, Spain. juandario.ortigoza@sjd.es.
المصدر:	Journal of neurology [J Neurol] 2024 Jul; Vol. 271 (7), pp. 3777-3781. Date of Electronic Publication: 2024 May 10.
نوع المنشور:	Letter
اللغة:	English
بيانات الدورية:	Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE
أسماء مطبوعة:	Original Publication: Berlin ; New York, Springer-Verlag
مواضيع طبية MeSH:	Epilepsy* , GTP-Binding Protein alpha Subunits, Gi-Go*/genetics, Humans ; Autistic Disorder ; Male
References:	Domínguez-Carral J, Ludlam WG, Junyent Segarra M et al (2023) Severity of GNAO1-related disorder correlates with changes in G-protein function. Ann. Neurol. 94(5):987–1004. (PMID: 10.1002/ana.2675837548038) Sáez González M, Kloosterhuis K, van de Pol L et al (2023) Phenotypic diversity in GNAO1 patients: a comprehensive overview of variants and phenotypes. Hum Mutat 2023:1–16. (PMID: 10.1155/2023/6628283) Muntean BS, Masuho I, Dao M, Sutton LP, Zucca S, Iwamoto H, Patil DN, Wang D, Birnbaumer L, Blakely RD, Grill BMK (2021) Gαo is a major determinant of cAMP signaling in the pathophysiology of movement disorders. Cell Rep 34(5):108718. (PMID: 10.1016/j.celrep.2021.108718335350377903328) Carecchio M, Invernizzi F, Gonzàlez-Latapi P et al (2019) Frequency and phenotypic spectrum of KMT2B dystonia in childhood: a single-center cohort study. Mov Disord 34(10):1516–1527. (PMID: 10.1002/mds.2777131216378) Wirth T, Garone G, Kurian MA et al (2022) Highlighting the dystonic phenotype related to GNAO1. Mov Disord 37(7):1547–1554. (PMID: 10.1002/mds.29074357227759545634) Silachev D, Koval A, Savitsky M et al (2022) Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation. Acta Neuropathol. Commun. 10(1):1–17. https://doi.org/10.1186/s40478-022-01312-z. (PMID: 10.1186/s40478-022-01312-z) Galosi S, Novelli M, Di Rocco M et al (2023) GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum. Mov. Disord. 12:2313–2314. (PMID: 10.1002/mds.29585)
معلومات مُعتمدة:	DA036596 United States GF NIH HHS; NS124758 United States GF NIH HHS; 0011-1411-2020-000006 Goverment of Navarra
المشرفين على المادة:	0 (GNAO1 protein, human) EC 3.6.5.1 (GTP-Binding Protein alpha Subunits, Gi-Go)
تواريخ الأحداث:	Date Created: 20240509 Date Completed: 20240709 Latest Revision: 20240731
رمز التحديث:	20240801
DOI:	10.1007/s00415-024-12418-w
PMID:	38724739
قاعدة البيانات:	MEDLINE

Find this article in full text from Springer Verlag.

Full Text Finder

الوصف
تدمد:	1432-1459
DOI:	10.1007/s00415-024-12418-w