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Article
Neuropathologic measurements in focal cortical dysplasias: validation of the ILAE 2011 classification system and diagnostic implications for MRI
Focal cortical dysplasias (FCD) which represent a composite group of cortical malformations are increasingly recognized as morphological substrate for severe therapy-refractory epilepsy in children and young a...
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Article
Open AccessDeep sequencing reveals increased DNA methylation in chronic rat epilepsy
Epilepsy is a frequent neurological disorder, although onset and progression of seizures remain difficult to predict in affected patients, irrespective of their epileptogenic condition. Previous studies in ani...
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Open AccessEtiology matters – Genomic DNA Methylation Patterns in Three Rat Models of Acquired Epilepsy
This study tested the hypothesis that acquired epileptogenesis is accompanied by DNA methylation changes independent of etiology. We investigated DNA methylation and gene expression in the hippocampal CA3/dent...
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Article
Low-grade epilepsy-associated neuroepithelial tumours — the 2016 WHO classification
The recently revised 5th edition of the WHO classification of brain tumours 'blue book' will have a major impact in stratifying diagnosis and treatment. However, low-grade neuroepithelial tumours (LEATs), whic...
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Article
Die ILAE-Klassifikation fokaler kortikaler Dysplasien im klinischen Gebrauch
Sechs Jahre nach Veröffentlichung soll der Nutzen der ILAE-Konsensus-Klassifikation Fokaler Kortikaler Dysplasien (FCD) bewertet werden. FCDs sind häufige Ursachen frühkindlicher und medikamentös schwierig zu ...
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Article
Open AccessMosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay
Polymicrogyria (PMG) is a developmental cortical malformation characterized by an excess of small and frustrane gyration and abnormal cortical lamination. PMG frequently associates with seizures. The molecular...
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Article
Open AccessFrequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
Focal malformations of cortical development (MCD) are linked to somatic brain mutations occurring during neurodevelopment. Mild malformation of cortical development with oligodendroglial hyperplasia in epileps...
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Article
Open AccessDNA methylation-based classification of malformations of cortical development in the human brain
Malformations of cortical development (MCD) comprise a broad spectrum of structural brain lesions frequently associated with epilepsy. Disease definition and diagnosis remain challenging and are often prone to...
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Article
Epigenetic genes and epilepsy — emerging mechanisms and clinical applications
An increasing number of epilepsies are being attributed to variants in genes with epigenetic functions. The products of these genes include factors that regulate the structure and function of chromatin and the...
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Article
Open AccessOntology-based feature engineering in machine learning workflows for heterogeneous epilepsy patient records
Biomedical ontologies are widely used to harmonize heterogeneous data and integrate large volumes of clinical data from multiple sources. This study analyzed the utility of ontologies beyond their traditional ...
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Article
Open AccessCorrection to: Ganglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes
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Article
Open AccessGanglioglioma with adverse clinical outcome and atypical histopathological features were defined by alterations in PTPN11/KRAS/NF1 and other RAS-/MAP-Kinase pathway genes
Exome-wide sequencing studies recently described PTPN11 as a novel brain somatic epilepsy gene. In contrast, germline mutations of PTPN11 are known to cause Noonan syndrome, a multisystem disorder characterized b...
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Article
Open AccessThe specific DNA methylation landscape in focal cortical dysplasia ILAE type 3D
Focal Cortical Dysplasia (FCD) is a frequent cause of drug-resistant focal epilepsy in children and young adults. The international FCD classifications of 2011 and 2022 have identified several clinico-patholog...
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Article
D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery
MOGHE is defined as mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy. Approximately half of the patients with histopathologically confirmed MOGHE carry a brain somatic va...
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Article
Open AccessSmall leucine-rich proteoglycans inhibit CNS regeneration by modifying the structural and mechanical properties of the lesion environment
Extracellular matrix (ECM) deposition after central nervous system (CNS) injury leads to inhibitory scarring in humans and other mammals, whereas it facilitates axon regeneration in the zebrafish. However, the...
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Article
Open AccessDeep histopathology genotype–phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb
Focal cortical dysplasia type II (FCDII) is the most common cause of drug-resistant focal epilepsy in children. Herein, we performed a deep histopathology-based genotype–phenotype analysis to further elucidate...
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Article
Open AccessCorrection to: The specific DNA methylation landscape in focal cortical dysplasia ILAE type 3D
