Search Results - "Mühlebner, Angelika"
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Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery
Published in The New England journal of medicine (26-10-2017)“…Examination of approximately 10,000 specimens obtained during surgery for intractable seizures in children and adults resulted in 36 distinct diagnoses in…”
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2
Seizure-mediated iron accumulation and dysregulated iron metabolism after status epilepticus and in temporal lobe epilepsy
Published in Acta neuropathologica (01-10-2021)“…Neuronal dysfunction due to iron accumulation in conjunction with reactive oxygen species (ROS) could represent an important, yet underappreciated, component…”
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3
Efficacy and tolerability of the ketogenic diet versus high‐dose adrenocorticotropic hormone for infantile spasms: A single‐center parallel‐cohort randomized controlled trial
Published in Epilepsia (Copenhagen) (01-03-2019)“…Summary Objective To compare the efficacy and safety of the ketogenic diet (KD) with standard adrenocorticotropic hormone (ACTH) treatment in infants with West…”
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4
Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay
Published in Acta neuropathologica (01-12-2020)“…Polymicrogyria (PMG) is a developmental cortical malformation characterized by an excess of small and frustrane gyration and abnormal cortical lamination. PMG…”
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5
Oligosarcomas, IDH-mutant are distinct and aggressive
Published in Acta neuropathologica (01-02-2022)“…Oligodendrogliomas are defined at the molecular level by the presence of an IDH mutation and codeletion of chromosomal arms 1p and 19q. In the past, case…”
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6
Myelin Pathology Beyond White Matter in Tuberous Sclerosis Complex (TSC) Cortical Tubers
Published in Journal of neuropathology and experimental neurology (01-10-2020)“…Abstract Tuberous sclerosis complex (TSC) is a monogenetic disease that arises due to mutations in either the TSC1 or TSC2 gene and affects multiple organ…”
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Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial
Published in Epilepsia (Copenhagen) (01-06-2021)“…Objective Focal cortical dysplasia (FCD) is a major cause of difficult‐to‐treat epilepsy in children and young adults, and the diagnosis is currently based on…”
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Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasia
Published in Epilepsia (Copenhagen) (01-06-2019)“…Objectives Focal cortical dysplasia (FCD) is a major cause of drug‐resistant focal epilepsy in children, and the clinicopathological classification remains a…”
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DNA methylation-based classification of malformations of cortical development in the human brain
Published in Acta neuropathologica (01-01-2022)“…Malformations of cortical development (MCD) comprise a broad spectrum of structural brain lesions frequently associated with epilepsy. Disease definition and…”
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Efficacy and safety of Everolimus in children with TSC - associated epilepsy - Pilot data from an open single-center prospective study
Published in Orphanet journal of rare diseases (03-11-2016)“…Epilepsy occurs in up to 90 % of all individuals with tuberous sclerosis complex (TSC). In 67 % disease onset is during childhood. In ≥ 50 % seizures are…”
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Neuropathologic measurements in focal cortical dysplasias: validation of the ILAE 2011 classification system and diagnostic implications for MRI
Published in Acta neuropathologica (01-02-2012)“…Focal cortical dysplasias (FCD) which represent a composite group of cortical malformations are increasingly recognized as morphological substrate for severe…”
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Good interobserver and intraobserver agreement in the evaluation of the new ILAE classification of focal cortical dysplasias
Published in Epilepsia (Copenhagen) (01-08-2012)“…Summary Purpose: An International League Against Epilepsy (ILAE) consensus classification system for focal cortical dysplasias (FCDs) has been published in…”
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13
Functional aspects of early brain development are preserved in tuberous sclerosis complex (TSC) epileptogenic lesions
Published in Neurobiology of disease (01-11-2016)“…Abstract Tuberous sclerosis complex (TSC) is a rare multi-system genetic disease characterized by several neurological disorders, the most common of which is…”
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Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex
Published in PloS one (13-06-2016)“…Tuberous Sclerosis Complex (TSC) is a genetic hamartoma syndrome frequently associated with severe intractable epilepsy. In some TSC patients epilepsy surgery…”
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15
Vertical perithalamic hemispherotomy: A single‐center experience in 40 pediatric patients with epilepsy
Published in Epilepsia (Copenhagen) (01-11-2013)“…Summary Purpose The current concept for hemispherotomy includes various lateral techniques and the vertical perithalamic hemispherotomy introduced by Delalande…”
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16
Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex
Published in Cellular and molecular neurobiology (01-11-2022)“…Tuberous sclerosis complex (TSC) is a monogenic disorder caused by mutations in either the TSC1 or TSC2 gene, two key regulators of the mechanistic target of…”
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MicroRNA‐34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis
Published in Neuropathology and applied neurobiology (01-10-2021)“…Aims Tuberous sclerosis complex (TSC) is a genetic disorder associated with dysregulation of the mechanistic target of rapamycin complex 1 (mTORC1) signalling…”
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18
Unexpected Effect of IL-1β on the Function of GABAA Receptors in Pediatric Focal Cortical Dysplasia
Published in Brain sciences (19-06-2022)“…Focal cortical dysplasia (FCD) type II is an epileptogenic malformation of the neocortex, as well as a leading cause of drug-resistant focal epilepsy in…”
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Genetic pathogenesis of the epileptogenic lesions in Tuberous Sclerosis Complex: Therapeutic targeting of the mTOR pathway
Published in Epilepsy & behavior (01-06-2022)“…•Overactivation of the mTOR pathway is responsible for TSC-related epilepsy.•Mammalian target of rapamycin (mTOR) inhibitors offer a targeted therapeutic and…”
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20
GABAA receptor function is enhanced by Interleukin-10 in human epileptogenic gangliogliomas and its effect is counteracted by Interleukin-1β
Published in Scientific reports (26-10-2022)“…Gangliogliomas (GGs) are low-grade brain tumours that cause intractable focal epilepsy in children and adults. In GG, as in epileptogenic focal malformations (…”
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