Diverse faces of GNAO1: mild forms in epilepsy and autism

William Grant Ludlam^#¹, Luca Soliani^#^{2

3}, Jana Domínguez-Carral⁴, Duccio Maria Cordelli^{2

3}, Valentina Marchiani², Nerea Gorría-Redondo^{5

6}, Sergio Aguilera-Albesa^{5

6}, Kirill A Martemyanov^#^{7

8}, Juan Darío Ortigoza-Escobar^#^{9

10

11

12}

Affiliations

¹ Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, FL, USA.
² IRCCS Istituto Delle Scienze Neurologiche Di Bologna UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.
³ Dipartimento Di Scienze Mediche E Chirurgiche (DIMEC), Università Di Bologna, Bologna, Italy.
⁴ Epilepsy Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
⁵ Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario de Navarra, Pamplona, Spain.
⁶ Navarrabiomed Biomedical Research Center, Pamplona, Spain.
⁷ Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, FL, USA. kmartemyanov@ufl.edu.
⁸ Department of Neuroscience, The Scripps Research Institute, Jupiter, FL, 33458, USA. kmartemyanov@ufl.edu.
⁹ Movement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. juandario.ortigoza@sjd.es.
¹⁰ U-703 Center for Biomedical Research On Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain. juandario.ortigoza@sjd.es.
¹¹ European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain. juandario.ortigoza@sjd.es.
¹² 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.

^# Contributed equally.

PMID: 38724739
DOI: 10.1007/s00415-024-12418-w

Diverse faces of GNAO1: mild forms in epilepsy and autism

William Grant Ludlam et al. J Neurol. 2024 Jul.

. 2024 Jul;271(7):3777-3781.

doi: 10.1007/s00415-024-12418-w. Epub 2024 May 10.

Authors

Affiliations

¹ Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, FL, USA.
² IRCCS Istituto Delle Scienze Neurologiche Di Bologna UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.
³ Dipartimento Di Scienze Mediche E Chirurgiche (DIMEC), Università Di Bologna, Bologna, Italy.
⁴ Epilepsy Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.
⁵ Pediatric Neurology Unit, Department of Pediatrics, Hospital Universitario de Navarra, Pamplona, Spain.
⁶ Navarrabiomed Biomedical Research Center, Pamplona, Spain.
⁷ Department of Neuroscience, The Herbert Wertheim UF Scripps Institute for Biomedical Innovation & Technology, University of Florida, Jupiter, FL, USA. kmartemyanov@ufl.edu.
⁸ Department of Neuroscience, The Scripps Research Institute, Jupiter, FL, 33458, USA. kmartemyanov@ufl.edu.
⁹ Movement Disorders Unit, Department of Child Neurology, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. juandario.ortigoza@sjd.es.
¹⁰ U-703 Center for Biomedical Research On Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain. juandario.ortigoza@sjd.es.
¹¹ European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain. juandario.ortigoza@sjd.es.
¹² 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.

^# Contributed equally.

PMID: 38724739
DOI: 10.1007/s00415-024-12418-w

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References

1. 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 - DOI - PubMed
1. 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 - DOI
1. 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 - DOI - PubMed - PMC
1. 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 - DOI - PubMed
1. Wirth T, Garone G, Kurian MA et al (2022) Highlighting the dystonic phenotype related to GNAO1. Mov Disord 37(7):1547–1554 - DOI - PubMed - PMC

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Diverse faces of GNAO1: mild forms in epilepsy and autism

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Diverse faces of GNAO1: mild forms in epilepsy and autism

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