Resting-State EEG Analysis Characterizes the Signature of CACNA1A-and GAA-FGF14-Related Channelopathies

Cerebellar ataxia frequently results from ion channel dysfunction, with CACNA1A- and GAA- FGF14 -related diseases representing two of the most prevalent genetic etiologies. While both disorders may share overlapping clinical features, their pathophysiology remain distinct and incompletely understood...

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Vydané v:	Cerebellum (London, England) Ročník 24; číslo 6; s. 175
Hlavní autori:	Angerbauer, Raphael, Unterberger, Iris, Nachbauer, Wolfgang, Amprosi, Matthias, Boesch, Sylvia, Cesari, Matteo, Indelicato, Elisabetta
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	New York Springer US 15.11.2025 Springer Nature B.V
Predmet:	Adolescent Adult Ataxia Bayesian analysis Biomedical and Life Sciences Biomedicine Brain Brain - physiopathology Calcium Channels - genetics Cerebellar ataxia Cerebellar Ataxia - genetics Cerebellar Ataxia - physiopathology Cerebellum Channelopathies - genetics Channelopathies - physiopathology Child EEG Electrodes Electroencephalography Electroencephalography - methods Epilepsy Female Fibroblast Growth Factors - genetics Humans Male Mental disorders Middle Aged Migraine Neural networks Neurobiology Neurology Neurosciences Normal distribution Patients Retrospective Studies Theta rhythms Variables Young Adult Resting-state EEG Spinocerebellar ataxia type 27B CACNA1A FGF14 Connectivity analysis
ISSN:	1473-4230, 1473-4222, 1473-4230
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Abstract	Cerebellar ataxia frequently results from ion channel dysfunction, with CACNA1A- and GAA- FGF14 -related diseases representing two of the most prevalent genetic etiologies. While both disorders may share overlapping clinical features, their pathophysiology remain distinct and incompletely understood. Advanced resting-state electroencephalogram (rsEEG) analysis is an established methodology to assess cortical dynamics and network dysfunction in brain disorders. We applied advanced rsEEG analysis to identify disease-specific electrophysiological patterns in CACNA1A- and GAA- FGF14 -related diseases. Routine scalp EEG examinations from genetically confirmed patients were retrospectively collected at the Department of Neurology of the Medical University Innsbruck. EEGs from matched healthy controls were retrieved from a publicly available database. Using a Bayesian hierarchical modeling framework, we analyzed spectral bandpower and functional connectivity metrics. Compared to healthy controls, CACNA1A patients ( n = 29) exhibited significantly increased theta-band power and reduced alpha peak frequency across all brain regions. Additionally, they showed enhanced functional connectivity in both the delta/theta and gamma frequency bands. In contrast, findings in the GAA- FGF14 –related group ( n = 15) largely overlapped with those of healthy controls, with only mild alterations characterized by increased beta power in posterior regions and a hyperconnectivity pattern in the alpha band. CACNA1A -related disease is associated with widespread cortical network dysfunction, aligning with the clinical observation of frequent cognitive and neuropsychiatric symptoms—unlike the pure motor presentation seen in GAA- FGF14 –related disease. Advanced rsEEG analysis allows for the non-invasive and repeatable detection and quantification of these alterations, holding promise for the development of surrogate markers for rare channelopathies.
AbstractList	Cerebellar ataxia frequently results from ion channel dysfunction, with CACNA1A- and GAA- FGF14 -related diseases representing two of the most prevalent genetic etiologies. While both disorders may share overlapping clinical features, their pathophysiology remain distinct and incompletely understood. Advanced resting-state electroencephalogram (rsEEG) analysis is an established methodology to assess cortical dynamics and network dysfunction in brain disorders. We applied advanced rsEEG analysis to identify disease-specific electrophysiological patterns in CACNA1A- and GAA- FGF14 -related diseases. Routine scalp EEG examinations from genetically confirmed patients were retrospectively collected at the Department of Neurology of the Medical University Innsbruck. EEGs from matched healthy controls were retrieved from a publicly available database. Using a Bayesian hierarchical modeling framework, we analyzed spectral bandpower and functional connectivity metrics. Compared to healthy controls, CACNA1A patients ( n = 29) exhibited significantly increased theta-band power and reduced alpha peak frequency across all brain regions. Additionally, they showed enhanced functional connectivity in both the delta/theta and gamma frequency bands. In contrast, findings in the GAA- FGF14 –related group ( n = 15) largely overlapped with those of healthy controls, with only mild alterations characterized by increased beta power in posterior regions and a hyperconnectivity pattern in the alpha band. CACNA1A -related disease is associated with widespread cortical network dysfunction, aligning with the clinical observation of frequent cognitive and neuropsychiatric symptoms—unlike the pure motor presentation seen in GAA- FGF14 –related disease. Advanced rsEEG analysis allows for the non-invasive and repeatable detection and quantification of these alterations, holding promise for the development of surrogate markers for rare channelopathies. Cerebellar ataxia frequently results from ion channel dysfunction, with CACNA1A- and GAA-FGF14-related diseases representing two of the most prevalent genetic etiologies. While both disorders may share overlapping clinical features, their pathophysiology remain distinct and incompletely understood. Advanced resting-state electroencephalogram (rsEEG) analysis is an established methodology to assess cortical dynamics and network dysfunction in brain disorders. We applied advanced rsEEG analysis to identify disease-specific electrophysiological patterns in CACNA1A- and GAA-FGF14-related diseases. Routine scalp EEG examinations from genetically confirmed patients were retrospectively collected at the Department of Neurology of the Medical University Innsbruck. EEGs from matched healthy controls were retrieved from a publicly available database. Using a Bayesian hierarchical modeling framework, we analyzed spectral bandpower and functional connectivity metrics. Compared to healthy controls, CACNA1A patients (n = 29) exhibited significantly increased theta-band power and reduced alpha peak frequency across all brain regions. Additionally, they showed enhanced functional connectivity in both the delta/theta and gamma frequency bands. In contrast, findings in the GAA-FGF14–related group (n = 15) largely overlapped with those of healthy controls, with only mild alterations characterized by increased beta power in posterior regions and a hyperconnectivity pattern in the alpha band. CACNA1A-related disease is associated with widespread cortical network dysfunction, aligning with the clinical observation of frequent cognitive and neuropsychiatric symptoms—unlike the pure motor presentation seen in GAA-FGF14–related disease. Advanced rsEEG analysis allows for the non-invasive and repeatable detection and quantification of these alterations, holding promise for the development of surrogate markers for rare channelopathies. Cerebellar ataxia frequently results from ion channel dysfunction, with CACNA1A- and GAA-FGF14-related diseases representing two of the most prevalent genetic etiologies. While both disorders may share overlapping clinical features, their pathophysiology remain distinct and incompletely understood. Advanced resting-state electroencephalogram (rsEEG) analysis is an established methodology to assess cortical dynamics and network dysfunction in brain disorders. We applied advanced rsEEG analysis to identify disease-specific electrophysiological patterns in CACNA1A- and GAA-FGF14-related diseases. Routine scalp EEG examinations from genetically confirmed patients were retrospectively collected at the Department of Neurology of the Medical University Innsbruck. EEGs from matched healthy controls were retrieved from a publicly available database. Using a Bayesian hierarchical modeling framework, we analyzed spectral bandpower and functional connectivity metrics. Compared to healthy controls, CACNA1A patients (n = 29) exhibited significantly increased theta-band power and reduced alpha peak frequency across all brain regions. Additionally, they showed enhanced functional connectivity in both the delta/theta and gamma frequency bands. In contrast, findings in the GAA-FGF14-related group (n = 15) largely overlapped with those of healthy controls, with only mild alterations characterized by increased beta power in posterior regions and a hyperconnectivity pattern in the alpha band. CACNA1A-related disease is associated with widespread cortical network dysfunction, aligning with the clinical observation of frequent cognitive and neuropsychiatric symptoms-unlike the pure motor presentation seen in GAA-FGF14-related disease. Advanced rsEEG analysis allows for the non-invasive and repeatable detection and quantification of these alterations, holding promise for the development of surrogate markers for rare channelopathies. Cerebellar ataxia frequently results from ion channel dysfunction, with CACNA1A- and GAA- FGF14 -related diseases representing two of the most prevalent genetic etiologies. While both disorders may share overlapping clinical features, their pathophysiology remain distinct and incompletely understood. Advanced resting-state electroencephalogram (rsEEG) analysis is an established methodology to assess cortical dynamics and network dysfunction in brain disorders. We applied advanced rsEEG analysis to identify disease-specific electrophysiological patterns in CACNA1A- and GAA- FGF14 -related diseases. Routine scalp EEG examinations from genetically confirmed patients were retrospectively collected at the Department of Neurology of the Medical University Innsbruck. EEGs from matched healthy controls were retrieved from a publicly available database. Using a Bayesian hierarchical modeling framework, we analyzed spectral bandpower and functional connectivity metrics. Compared to healthy controls, CACNA1A patients ( n = 29) exhibited significantly increased theta-band power and reduced alpha peak frequency across all brain regions. Additionally, they showed enhanced functional connectivity in both the delta/theta and gamma frequency bands. In contrast, findings in the GAA- FGF14 –related group ( n = 15) largely overlapped with those of healthy controls, with only mild alterations characterized by increased beta power in posterior regions and a hyperconnectivity pattern in the alpha band. CACNA1A -related disease is associated with widespread cortical network dysfunction, aligning with the clinical observation of frequent cognitive and neuropsychiatric symptoms—unlike the pure motor presentation seen in GAA- FGF14 –related disease. Advanced rsEEG analysis allows for the non-invasive and repeatable detection and quantification of these alterations, holding promise for the development of surrogate markers for rare channelopathies. Cerebellar ataxia frequently results from ion channel dysfunction, with CACNA1A- and GAA-FGF14-related diseases representing two of the most prevalent genetic etiologies. While both disorders may share overlapping clinical features, their pathophysiology remain distinct and incompletely understood. Advanced resting-state electroencephalogram (rsEEG) analysis is an established methodology to assess cortical dynamics and network dysfunction in brain disorders. We applied advanced rsEEG analysis to identify disease-specific electrophysiological patterns in CACNA1A- and GAA-FGF14-related diseases. Routine scalp EEG examinations from genetically confirmed patients were retrospectively collected at the Department of Neurology of the Medical University Innsbruck. EEGs from matched healthy controls were retrieved from a publicly available database. Using a Bayesian hierarchical modeling framework, we analyzed spectral bandpower and functional connectivity metrics. Compared to healthy controls, CACNA1A patients (n = 29) exhibited significantly increased theta-band power and reduced alpha peak frequency across all brain regions. Additionally, they showed enhanced functional connectivity in both the delta/theta and gamma frequency bands. In contrast, findings in the GAA-FGF14-related group (n = 15) largely overlapped with those of healthy controls, with only mild alterations characterized by increased beta power in posterior regions and a hyperconnectivity pattern in the alpha band. CACNA1A-related disease is associated with widespread cortical network dysfunction, aligning with the clinical observation of frequent cognitive and neuropsychiatric symptoms-unlike the pure motor presentation seen in GAA-FGF14-related disease. Advanced rsEEG analysis allows for the non-invasive and repeatable detection and quantification of these alterations, holding promise for the development of surrogate markers for rare channelopathies.Cerebellar ataxia frequently results from ion channel dysfunction, with CACNA1A- and GAA-FGF14-related diseases representing two of the most prevalent genetic etiologies. While both disorders may share overlapping clinical features, their pathophysiology remain distinct and incompletely understood. Advanced resting-state electroencephalogram (rsEEG) analysis is an established methodology to assess cortical dynamics and network dysfunction in brain disorders. We applied advanced rsEEG analysis to identify disease-specific electrophysiological patterns in CACNA1A- and GAA-FGF14-related diseases. Routine scalp EEG examinations from genetically confirmed patients were retrospectively collected at the Department of Neurology of the Medical University Innsbruck. EEGs from matched healthy controls were retrieved from a publicly available database. Using a Bayesian hierarchical modeling framework, we analyzed spectral bandpower and functional connectivity metrics. Compared to healthy controls, CACNA1A patients (n = 29) exhibited significantly increased theta-band power and reduced alpha peak frequency across all brain regions. Additionally, they showed enhanced functional connectivity in both the delta/theta and gamma frequency bands. In contrast, findings in the GAA-FGF14-related group (n = 15) largely overlapped with those of healthy controls, with only mild alterations characterized by increased beta power in posterior regions and a hyperconnectivity pattern in the alpha band. CACNA1A-related disease is associated with widespread cortical network dysfunction, aligning with the clinical observation of frequent cognitive and neuropsychiatric symptoms-unlike the pure motor presentation seen in GAA-FGF14-related disease. Advanced rsEEG analysis allows for the non-invasive and repeatable detection and quantification of these alterations, holding promise for the development of surrogate markers for rare channelopathies.
ArticleNumber	175
Author	Angerbauer, Raphael Amprosi, Matthias Boesch, Sylvia Indelicato, Elisabetta Cesari, Matteo Unterberger, Iris Nachbauer, Wolfgang
Author_xml	– sequence: 1 givenname: Raphael surname: Angerbauer fullname: Angerbauer, Raphael organization: Department of Neurology, Medical University Innsbruck, Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck – sequence: 2 givenname: Iris surname: Unterberger fullname: Unterberger, Iris organization: Department of Neurology, Medical University Innsbruck – sequence: 3 givenname: Wolfgang surname: Nachbauer fullname: Nachbauer, Wolfgang organization: Department of Neurology, Medical University Innsbruck, Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck – sequence: 4 givenname: Matthias surname: Amprosi fullname: Amprosi, Matthias organization: Department of Neurology, Medical University Innsbruck, Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck – sequence: 5 givenname: Sylvia surname: Boesch fullname: Boesch, Sylvia organization: Department of Neurology, Medical University Innsbruck, Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck – sequence: 6 givenname: Matteo orcidid: 0000-0001-6554-1033 surname: Cesari fullname: Cesari, Matteo organization: Department of Neurology, Medical University Innsbruck – sequence: 7 givenname: Elisabetta orcidid: 0000-0003-0217-8630 surname: Indelicato fullname: Indelicato, Elisabetta email: elisabetta.indelicato@i-med.ac.at organization: Department of Neurology, Medical University Innsbruck, Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University Innsbruck
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Cites_doi	10.3389/fneur.2021.639994 10.1016/j.neubiorev.2013.05.007 10.1016/j.ajhg.2023.05.009 10.1016/j.neurobiolaging.2005.07.021 10.1016/j.neuron.2020.12.007 10.1101/2024.10.25.620253 10.1007/s11004-018-9754-x 10.1016/j.dib.2022.108647 10.1007/164_2022_625 10.1016/j.neuron.2019.02.036 10.1016/j.neuroimage.2011.01.055 10.3389/fnagi.2014.00314/full 10.1073/pnas.96.26.15222 10.1093/brain/awaa051 10.1007/s00415-021-10415-x 10.1016/j.jneumeth.2010.07.015 10.1093/brain/aww018 10.1109/BIBM49941.2020.9313223 10.1016/j.ijpsycho.2014.04.001 10.1016/j.neurobiolaging.2016.03.018 10.1002/mds.30328 10.1146/annurev-neuro-062012-170330 10.1186/s12883-015-0400-7 10.1090/S0002-9939-1956-0078686-7 10.1093/brain/awx081 10.1016/j.neuroimage.2022.119351 10.1016/j.neurobiolaging.2015.10.007 10.3233/JAD-160735 10.1073/pnas.0707945104 10.7717/peerj-cs.1516 10.1038/s41598-024-78297-3 10.1056/NEJMoa2207406 10.1016/j.neurobiolaging.2019.10.004 10.1016/j.pnpbp.2020.109959 10.3389/fnins.2013.00267/abstract 10.1088/1741-2560/13/3/036015 10.1007/s00415-024-12602-y 10.1002/ctm2.1504
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References	PM Fox (1924_CR29) 2024; 5 1924_CR18 JB Kruskal (1924_CR22) 1956; 7 L Serra (1924_CR37) 2017; 55 1924_CR16 E Indelicato (1924_CR10) 2021; 12 1924_CR31 1924_CR32 RR Llinás (1924_CR33) 1999; 96 J Rodrigues Brazète (1924_CR27) 2016; 37 1924_CR13 JA López-Rivera (1924_CR5) 2020; 143 M Vinck (1924_CR21) 2011; 55 E Indelicato (1924_CR42) 2025 1924_CR34 LS Prichep (1924_CR35) 2006; 27 C Hatlestad-Hall (1924_CR17) 2022; 45 E Indelicato (1924_CR30) 2024; 271 E Indelicato (1924_CR6) 2023; 279 C Higgins (1924_CR12) 2021; 109 H Zhang (1924_CR11) 2023; 10 V Latreille (1924_CR14) 2016; 139 1924_CR26 MM Engels (1924_CR15) 2015; 15 M Fraschini (1924_CR19) 2016; 13 1924_CR20 1924_CR40 1924_CR7 1924_CR41 1924_CR24 1924_CR9 1924_CR25 D Pellerin (1924_CR8) 2023; 388 D Pellerin (1924_CR3) 2024; 14 1924_CR23 1924_CR1 X Du (1924_CR4) 2019; 102 1924_CR2 CG Forlim (1924_CR39) 2024; 14 CSY Benwell (1924_CR28) 2020; 85 RR Llinás (1924_CR36) 2007; 104 P Krukow (1924_CR38) 2020; 102
References_xml	– volume: 12 year: 2021 ident: 1924_CR10 publication-title: Front Neurol doi: 10.3389/fneur.2021.639994 – ident: 1924_CR31 doi: 10.1016/j.neubiorev.2013.05.007 – ident: 1924_CR2 doi: 10.1016/j.ajhg.2023.05.009 – volume: 27 start-page: 471 issue: 3 year: 2006 ident: 1924_CR35 publication-title: Neurobiol Aging doi: 10.1016/j.neurobiolaging.2005.07.021 – volume: 109 start-page: 882 issue: 5 year: 2021 ident: 1924_CR12 publication-title: Neuron doi: 10.1016/j.neuron.2020.12.007 – ident: 1924_CR7 doi: 10.1101/2024.10.25.620253 – ident: 1924_CR26 doi: 10.1007/s11004-018-9754-x – volume: 45 year: 2022 ident: 1924_CR17 publication-title: Data Brief doi: 10.1016/j.dib.2022.108647 – volume: 279 start-page: 227 year: 2023 ident: 1924_CR6 publication-title: Handb Exp Pharmacol doi: 10.1007/164_2022_625 – volume: 102 start-page: 770 issue: 4 year: 2019 ident: 1924_CR4 publication-title: Neuron doi: 10.1016/j.neuron.2019.02.036 – volume: 55 start-page: 1548 issue: 4 year: 2011 ident: 1924_CR21 publication-title: Neuroimage doi: 10.1016/j.neuroimage.2011.01.055 – ident: 1924_CR13 doi: 10.3389/fnagi.2014.00314/full – volume: 96 start-page: 15222 issue: 26 year: 1999 ident: 1924_CR33 publication-title: Proc Natl Acad Sci U S A doi: 10.1073/pnas.96.26.15222 – volume: 143 start-page: 1099 issue: 4 year: 2020 ident: 1924_CR5 publication-title: Brain doi: 10.1093/brain/awaa051 – ident: 1924_CR9 doi: 10.1007/s00415-021-10415-x – ident: 1924_CR20 doi: 10.1016/j.jneumeth.2010.07.015 – volume: 139 start-page: 1189 issue: 4 year: 2016 ident: 1924_CR14 publication-title: Brain doi: 10.1093/brain/aww018 – ident: 1924_CR40 doi: 10.1109/BIBM49941.2020.9313223 – volume: 10 issue: 1 year: 2023 ident: 1924_CR11 publication-title: Mil Med Res – ident: 1924_CR41 doi: 10.1016/j.ijpsycho.2014.04.001 – ident: 1924_CR16 doi: 10.1016/j.neurobiolaging.2016.03.018 – year: 2025 ident: 1924_CR42 publication-title: Mov Disord doi: 10.1002/mds.30328 – ident: 1924_CR32 doi: 10.1146/annurev-neuro-062012-170330 – volume: 15 issue: 1 year: 2015 ident: 1924_CR15 publication-title: BMC Neurol doi: 10.1186/s12883-015-0400-7 – volume: 7 start-page: 48 issue: 1 year: 1956 ident: 1924_CR22 publication-title: Proc Amer Math Soc doi: 10.1090/S0002-9939-1956-0078686-7 – ident: 1924_CR1 doi: 10.1093/brain/awx081 – ident: 1924_CR25 – ident: 1924_CR34 doi: 10.1016/j.neuroimage.2022.119351 – volume: 37 start-page: 74 year: 2016 ident: 1924_CR27 publication-title: Neurobiol Aging doi: 10.1016/j.neurobiolaging.2015.10.007 – volume: 5 year: 2024 ident: 1924_CR29 publication-title: Ther Adv Rare Dis – volume: 55 start-page: 421 issue: 1 year: 2017 ident: 1924_CR37 publication-title: J Alzheimers Dis doi: 10.3233/JAD-160735 – volume: 104 start-page: 17819 issue: 45 year: 2007 ident: 1924_CR36 publication-title: Proc Natl Acad Sci U S A doi: 10.1073/pnas.0707945104 – ident: 1924_CR24 doi: 10.7717/peerj-cs.1516 – volume: 14 issue: 1 year: 2024 ident: 1924_CR39 publication-title: Sci Rep doi: 10.1038/s41598-024-78297-3 – ident: 1924_CR23 – volume: 388 start-page: 128 issue: 2 year: 2023 ident: 1924_CR8 publication-title: N Engl J Med doi: 10.1056/NEJMoa2207406 – volume: 85 start-page: 83 year: 2020 ident: 1924_CR28 publication-title: Neurobiol Aging doi: 10.1016/j.neurobiolaging.2019.10.004 – volume: 102 year: 2020 ident: 1924_CR38 publication-title: Prog Neuropsychopharmacol Biol Psychiatry doi: 10.1016/j.pnpbp.2020.109959 – ident: 1924_CR18 doi: 10.3389/fnins.2013.00267/abstract – volume: 13 issue: 3 year: 2016 ident: 1924_CR19 publication-title: J Neural Eng doi: 10.1088/1741-2560/13/3/036015 – volume: 271 start-page: 6618 issue: 10 year: 2024 ident: 1924_CR30 publication-title: J Neurol doi: 10.1007/s00415-024-12602-y – volume: 14 issue: 1 year: 2024 ident: 1924_CR3 publication-title: Clin Transl Med doi: 10.1002/ctm2.1504
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Snippet	Cerebellar ataxia frequently results from ion channel dysfunction, with CACNA1A- and GAA- FGF14 -related diseases representing two of the most prevalent... Cerebellar ataxia frequently results from ion channel dysfunction, with CACNA1A- and GAA- FGF14 -related diseases representing two of the most prevalent... Cerebellar ataxia frequently results from ion channel dysfunction, with CACNA1A- and GAA-FGF14-related diseases representing two of the most prevalent genetic...
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SubjectTerms	Adolescent Adult Ataxia Bayesian analysis Biomedical and Life Sciences Biomedicine Brain Brain - physiopathology Calcium Channels - genetics Cerebellar ataxia Cerebellar Ataxia - genetics Cerebellar Ataxia - physiopathology Cerebellum Channelopathies - genetics Channelopathies - physiopathology Child EEG Electrodes Electroencephalography Electroencephalography - methods Epilepsy Female Fibroblast Growth Factors - genetics Humans Male Mental disorders Middle Aged Migraine Neural networks Neurobiology Neurology Neurosciences Normal distribution Patients Retrospective Studies Theta rhythms Variables Young Adult
Title	Resting-State EEG Analysis Characterizes the Signature of CACNA1A-and GAA-FGF14-Related Channelopathies
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