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Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasia.

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Title: Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasia.
Authors: Kobow, Katja, Coras, Roland, Blümcke, Ingmar, Kudernatsch, Manfred, Hamer, Hajo, Kasper, Burkhard S., Rössler, Karl, Conti, Valerio, Guerrini, Renzo, Ziemann, Mark, Khurana, Ishant, Kaspi, Antony, Kaipananickal, Harikrishnan, El‐Osta, Assam, Feucht, Martha, Mühlebner, Angelika, Aronica, Eleonora, Hainfellner, Johannes A., Czech, Thomas, Pieper, Tom
Source: Epilepsia (Series 4). Jun2019, Vol. 60 Issue 6, p1091-1103. 13p.
Subjects: DNA methylation, Temporal lobe epilepsy, Partial epilepsy, Hierarchical clustering (Cluster analysis), Childhood epilepsy
Abstract: Objectives: Focal cortical dysplasia (FCD) is a major cause of drug‐resistant focal epilepsy in children, and the clinicopathological classification remains a challenging issue in daily practice. With the recent progress in DNA methylation–based classification of human brain tumors we examined whether genomic DNA methylation and gene expression analysis can be used to also distinguish human FCD subtypes. Methods: DNA methylomes and transcriptomes were generated from massive parallel sequencing in 15 surgical FCD specimens, matched with 5 epilepsy and 6 nonepilepsy controls. Results: Differential hierarchical cluster analysis of DNA methylation distinguished major FCD subtypes (ie, Ia, IIa, and IIb) from patients with temporal lobe epilepsy patients and nonepileptic controls. Targeted panel sequencing identified a novel likely pathogenic variant in DEPDC5 in a patient with FCD type IIa. However, no enrichment of differential DNA methylation or gene expression was observed in mechanistic target of rapamycin (mTOR) pathway–related genes. Significance: Our studies extend the evidence for disease‐specific methylation signatures toward focal epilepsies in favor of an integrated clinicopathologic and molecular classification system of FCD subtypes incorporating genomic methylation. [ABSTRACT FROM AUTHOR]
Copyright of Epilepsia (Series 4) is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasia.
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  Data: <searchLink fieldCode="AR" term="%22Kobow%2C+Katja%22">Kobow, Katja</searchLink><br /><searchLink fieldCode="AR" term="%22Coras%2C+Roland%22">Coras, Roland</searchLink><br /><searchLink fieldCode="AR" term="%22Blümcke%2C+Ingmar%22">Blümcke, Ingmar</searchLink><br /><searchLink fieldCode="AR" term="%22Kudernatsch%2C+Manfred%22">Kudernatsch, Manfred</searchLink><br /><searchLink fieldCode="AR" term="%22Hamer%2C+Hajo%22">Hamer, Hajo</searchLink><br /><searchLink fieldCode="AR" term="%22Kasper%2C+Burkhard+S%2E%22">Kasper, Burkhard S.</searchLink><br /><searchLink fieldCode="AR" term="%22Rössler%2C+Karl%22">Rössler, Karl</searchLink><br /><searchLink fieldCode="AR" term="%22Conti%2C+Valerio%22">Conti, Valerio</searchLink><br /><searchLink fieldCode="AR" term="%22Guerrini%2C+Renzo%22">Guerrini, Renzo</searchLink><br /><searchLink fieldCode="AR" term="%22Ziemann%2C+Mark%22">Ziemann, Mark</searchLink><br /><searchLink fieldCode="AR" term="%22Khurana%2C+Ishant%22">Khurana, Ishant</searchLink><br /><searchLink fieldCode="AR" term="%22Kaspi%2C+Antony%22">Kaspi, Antony</searchLink><br /><searchLink fieldCode="AR" term="%22Kaipananickal%2C+Harikrishnan%22">Kaipananickal, Harikrishnan</searchLink><br /><searchLink fieldCode="AR" term="%22El‐Osta%2C+Assam%22">El‐Osta, Assam</searchLink><br /><searchLink fieldCode="AR" term="%22Feucht%2C+Martha%22">Feucht, Martha</searchLink><br /><searchLink fieldCode="AR" term="%22Mühlebner%2C+Angelika%22">Mühlebner, Angelika</searchLink><br /><searchLink fieldCode="AR" term="%22Aronica%2C+Eleonora%22">Aronica, Eleonora</searchLink><br /><searchLink fieldCode="AR" term="%22Hainfellner%2C+Johannes+A%2E%22">Hainfellner, Johannes A.</searchLink><br /><searchLink fieldCode="AR" term="%22Czech%2C+Thomas%22">Czech, Thomas</searchLink><br /><searchLink fieldCode="AR" term="%22Pieper%2C+Tom%22">Pieper, Tom</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Epilepsia+%28Series+4%29%22">Epilepsia (Series 4)</searchLink>. Jun2019, Vol. 60 Issue 6, p1091-1103. 13p.
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  Data: <searchLink fieldCode="DE" term="%22DNA+methylation%22">DNA methylation</searchLink><br /><searchLink fieldCode="DE" term="%22Temporal+lobe+epilepsy%22">Temporal lobe epilepsy</searchLink><br /><searchLink fieldCode="DE" term="%22Partial+epilepsy%22">Partial epilepsy</searchLink><br /><searchLink fieldCode="DE" term="%22Hierarchical+clustering+%28Cluster+analysis%29%22">Hierarchical clustering (Cluster analysis)</searchLink><br /><searchLink fieldCode="DE" term="%22Childhood+epilepsy%22">Childhood epilepsy</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Objectives: Focal cortical dysplasia (FCD) is a major cause of drug‐resistant focal epilepsy in children, and the clinicopathological classification remains a challenging issue in daily practice. With the recent progress in DNA methylation–based classification of human brain tumors we examined whether genomic DNA methylation and gene expression analysis can be used to also distinguish human FCD subtypes. Methods: DNA methylomes and transcriptomes were generated from massive parallel sequencing in 15 surgical FCD specimens, matched with 5 epilepsy and 6 nonepilepsy controls. Results: Differential hierarchical cluster analysis of DNA methylation distinguished major FCD subtypes (ie, Ia, IIa, and IIb) from patients with temporal lobe epilepsy patients and nonepileptic controls. Targeted panel sequencing identified a novel likely pathogenic variant in DEPDC5 in a patient with FCD type IIa. However, no enrichment of differential DNA methylation or gene expression was observed in mechanistic target of rapamycin (mTOR) pathway–related genes. Significance: Our studies extend the evidence for disease‐specific methylation signatures toward focal epilepsies in favor of an integrated clinicopathologic and molecular classification system of FCD subtypes incorporating genomic methylation. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Epilepsia (Series 4) is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=136821468
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        Value: 10.1111/epi.14934
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        Text: English
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      – TitleFull: Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasia.
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