Search Results - "Iffland, H."
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Focal Cortical Dysplasia: Gene Mutations, Cell Signaling, and Therapeutic Implications
Published in Annual review of pathology (24-01-2017)“…Focal cortical dysplasias (FCDs) are malformations of cortical development (MCDs) that are highly associated with medication-resistant epilepsy and are the…”
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2
GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations
Published in Epilepsia (Copenhagen) (01-11-2019)“…The mechanistic target of rapamycin (mTOR) pathway has been implicated in a growing number of malformations of cortical development (MCD) associated with…”
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3
DEPDC5 and NPRL3 modulate cell size, filopodial outgrowth, and localization of mTOR in neural progenitor cells and neurons
Published in Neurobiology of disease (01-06-2018)“…Mutations in DEPDC5 and NPRL3 subunits of GATOR1, a modulator of mechanistic target of rapamycin (mTOR), are linked to malformations of cortical development…”
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4
NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold
Published in Brain (London, England : 1878) (21-11-2022)“…Mutations in nitrogen permease regulator-like 3 (NPRL3), a component of the GATOR1 complex within the mTOR pathway, are associated with epilepsy and…”
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5
A role for inflammation in status epilepticus is revealed by a review of current therapeutic approaches
Published in Epilepsia (Copenhagen) (01-09-2013)“…Summary A significant number of patients with epilepsy fail to respond to currently available antiepileptic drugs. This suggests a need for alternative…”
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6
BK channel properties correlate with neurobehavioral severity in three KCNMA1 -linked channelopathy mouse models
Published in eLife (12-07-2022)“…KCNMA1 forms the pore of BK K channels, which regulate neuronal and muscle excitability. Recently, genetic screening identified heterozygous variants in a…”
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7
The role of somatic mutational events in the pathogenesis of epilepsy
Published in Current opinion in neurology (01-04-2019)“…There has been rapid progress in defining novel causative gene variants responsible for a large spectrum of human epilepsy syndromes and subtypes. Of…”
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8
A Novel Model to Explain Extreme Feather Pecking Behavior in Laying Hens
Published in Behavior genetics (2020)“…Feather pecking (FP) is a serious economic and welfare problem in the domestic fowl. It has recently been shown that the distribution of FP bouts within groups…”
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9
Quantitative genetic analysis of causal relationships among feather pecking, feather eating, and general locomotor activity in laying hens using structural equation models
Published in Poultry science (01-08-2016)“…The objective of this research was to analyze the relationship between feather pecking (FP) and feather eating (FE) as well as general locomotor activity (GLA)…”
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10
Dynamic analysis of 4E-BP1 phosphorylation in neurons with Tsc2 or Depdc5 knockout
Published in Experimental neurology (01-12-2020)“…TSC1 or TSC2 mutations cause Tuberous Sclerosis Complex (TSC), and lead to mechanistic target of rapamycin (mTOR) hyperactivation evidenced by…”
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11
Viral expression of constitutively active AKT3 induces CST axonal sprouting and regeneration, but also promotes seizures
Published in Experimental neurology (01-03-2022)“…Increasing the intrinsic growth potential of neurons after injury has repeatedly been shown to promote some level of axonal regeneration in rodent models. One…”
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12
Intracellular and circulating neuronal antinuclear antibodies in human epilepsy
Published in Neurobiology of disease (01-11-2013)“…Abstract There are overwhelming data supporting the inflammatory origin of some epilepsies ( e.g. , Rasmussen's encephalitis and limbic encephalitis)…”
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13
Multimodal Analysis of STRADA Function in Brain Development
Published in Frontiers in cellular neuroscience (08-05-2020)“…mTORopathies are a heterogeneous group of neurological disorders characterized by malformations of cortical development (MCD), enhanced cellular mechanistic…”
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14
Anti-NR2 antibodies, blood-brain barrier, and cognitive dysfunction
Published in Clinical rheumatology (01-12-2016)“…Cognitive dysfunction (CD) is one of the most common neuropsychiatric manifestations of systemic lupus erythematosus (SLE). In animal models, antibodies to NR2…”
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15
Sending Mixed Signals: The Expanding Role of Molecular Cascade Mutations in Malformations of Cortical Development and Epilepsy
Published in Epilepsy Currents (01-05-2016)“…Advances in gene sequencing techniques have led to a dramatic increase in the number of signaling cascade and cytoskeletal assembly mutations associated with…”
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Book Review Journal Article -
16
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes
Published in Brain (London, England : 1878) (02-11-2023)“…Abstract KPTN-related disorder is an autosomal recessive disorder associated with germline variants in KPTN (previously known as kaptin), a component of the…”
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17
Clinical evaluation of the effect of an ultrasonic toothbrush on plaque, gingivitis, and gingival bleeding: A six-month study
Published in The Journal of prosthetic dentistry (1995)“…This study evaluated the long-term effect of an ultrasonic toothbrush used as part of a daily oral hygiene regimen on supragingival plaque, gingivitis, and…”
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Radiotherapy and oral sequelae: preventive and management protocols
Published in Journal of dental hygiene (01-01-1997)“…The purpose of this paper is to provide background information on radiotherapy, and to present dental hygiene protocols for the treatment of head and neck…”
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19
GATOR opathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations
Published in Epilepsia (Copenhagen) (01-11-2019)“…Abstract The mechanistic target of rapamycin (mTOR) pathway has been implicated in a growing number of malformations of cortical development (MCD) associated…”
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Journal Article -
20
What doesn't kill you makes you stronger: The paradoxical effect of antibodies in epilepsy
Published 01-01-2015“…Many types of epilepsy, autoimmune or otherwise, are associated with the presence of autoantibodies against neuronal proteins. Paradoxically, antibodies (IVIg)…”
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Dissertation