LIVIVO - Search results -

Search results

Result 1 - 10 of total 19

Search options

Article ; Online: Nitrogen addition, not heterogeneity, alters the relationship between invasion and native decline in California grasslands.

Questad, Erin J / Fitch, Robert L / Paolini, Joshua / Hernández, Eliza / Suding, Katharine N

2021 Volume 197, Issue 3, Page(s) 651–660

Abstract: The presence of invasive species reduces the growth and performance of native species; however, the linear or non-linear relationships between invasive abundance and native population declines are less often studied. We examine how the amount and spatial ...

Abstract	The presence of invasive species reduces the growth and performance of native species; however, the linear or non-linear relationships between invasive abundance and native population declines are less often studied. We examine how the amount and spatial distribution of experimental N deposition influences the relationship between non-native, invasive annual grass abundance (Bromus hordeaceus and Bromus diandrus) and a dominant, native perennial grass species (Stipa pulchra) in California. We hypothesized that native populations would decline as invasion increased, and that high nitrogen availability would cause native species to decline at lower invasion levels. We predicted that the rate of population decline would be slower in heterogeneous, compared to homogeneous, environments. We employed a field experiment that manipulated the amount and spatial heterogeneity of N addition across a range of invasive/native-dominated communities. There were strong negative and non-linear associations between level of invasion and S. pulchra proportional change (PC). Stipa pulchra PC was more negative and seedling survival was lower when N was added, and the negative effects of N addition on PC became larger in the final year of the study when S. pulchra had the largest declines. There was not strong evidence showing reduced competition in heterogeneous, compared to homogeneous, N treatments. Soil moisture was similar between S. pulchra and B. hordeaceus plots under ambient N, but B. hordeaceus under added N reduced soil moisture. Under N addition, Bromus spp. take up N earlier, reduce soil moisture, and create dry conditions in which S. pulchra declines.
MeSH term(s)	Animals ; Bromus ; California ; Grassland ; Nitrogen ; Poaceae ; Soil
Chemical Substances	Soil ; Nitrogen (N762921K75)
Language	English
Publishing date	2021-10-13
Publishing country	Germany
Document type	Journal Article
ZDB-ID	123369-5
ISSN	1432-1939 ; 0029-8549
ISSN (online)	1432-1939
ISSN	0029-8549
DOI	10.1007/s00442-021-05049-9
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Bonn / Germany

Z 70/109: Show issues

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾

Article ; Online: L-Arabinose Transport and Metabolism in

Vasicek, Erin M / O'Neal, Lindsey / Parsek, Matthew R / Fitch, James / White, Peter / Gunn, John S

Frontiers in cellular and infection microbiology

2021 Volume 11, Page(s) 698146

Abstract: L-arabinose inducible promoters are commonly used in gene expression analysis. However, nutrient source and availability also play a role in biofilm formation; therefore, L-arabinose metabolism could impact biofilm development. In this study we examined ... ...

Abstract	L-arabinose inducible promoters are commonly used in gene expression analysis. However, nutrient source and availability also play a role in biofilm formation; therefore, L-arabinose metabolism could impact biofilm development. In this study we examined the impact of L-arabinose on
MeSH term(s)	Arabinose/metabolism ; Bacterial Proteins/genetics ; Bacterial Proteins/metabolism ; Biofilms ; Cyclic GMP ; Gene Expression Regulation, Bacterial ; Plasmids ; Salmonella typhimurium/genetics ; Salmonella typhimurium/metabolism
Chemical Substances	Bacterial Proteins ; Arabinose (B40ROO395Z) ; Cyclic GMP (H2D2X058MU)
Language	English
Publishing date	2021-07-22
Publishing country	Switzerland
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2619676-1
ISSN	2235-2988 ; 2235-2988
ISSN (online)	2235-2988
ISSN	2235-2988
DOI	10.3389/fcimb.2021.698146
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: Nitrogen addition, not heterogeneity, alters the relationship between invasion and native decline in California grasslands

Questad, Erin J. / Fitch, Robert L. / Paolini, Joshua / Hernández, Eliza / Suding, Katharine N.

Oecologia. 2021 Nov., v. 197, no. 3

2021

Abstract	The presence of invasive species reduces the growth and performance of native species; however, the linear or non-linear relationships between invasive abundance and native population declines are less often studied. We examine how the amount and spatial distribution of experimental N deposition influences the relationship between non-native, invasive annual grass abundance (Bromus hordeaceus and Bromus diandrus) and a dominant, native perennial grass species (Stipa pulchra) in California. We hypothesized that native populations would decline as invasion increased, and that high nitrogen availability would cause native species to decline at lower invasion levels. We predicted that the rate of population decline would be slower in heterogeneous, compared to homogeneous, environments. We employed a field experiment that manipulated the amount and spatial heterogeneity of N addition across a range of invasive/native-dominated communities. There were strong negative and non-linear associations between level of invasion and S. pulchra proportional change (PC). Stipa pulchra PC was more negative and seedling survival was lower when N was added, and the negative effects of N addition on PC became larger in the final year of the study when S. pulchra had the largest declines. There was not strong evidence showing reduced competition in heterogeneous, compared to homogeneous, N treatments. Soil moisture was similar between S. pulchra and B. hordeaceus plots under ambient N, but B. hordeaceus under added N reduced soil moisture. Under N addition, Bromus spp. take up N earlier, reduce soil moisture, and create dry conditions in which S. pulchra declines.
Keywords	Bromus diandrus ; Bromus hordeaceus ; Nassella pulchra ; decline ; field experimentation ; indigenous species ; invasive species ; nitrogen ; perennial grasses ; population dynamics ; seedlings ; soil water ; spatial variation ; California
Language	English
Dates of publication	2021-11
Size	p. 651-660.
Publishing place	Springer Berlin Heidelberg
Document type	Article
ZDB-ID	123369-5
ISSN	1432-1939 ; 0029-8549
ISSN (online)	1432-1939
ISSN	0029-8549
DOI	10.1007/s00442-021-05049-9
Database	NAL-Catalogue (AGRICOLA)

In stock of ZB MED Bonn / Germany

Z 70/109: Show issues

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾
- See ZB MED holdings
- Order with fees

Article: Temporal and spatial climatic controls on Holocene fire-related erosion and sedimentation, Jemez Mountains, New Mexico

Fitch, Erin P / Grant A. Meyer

University of Washington Quaternary Research. 2016 Jan., v. 85

2016

Abstract: In the Jemez Mountains, tree-ring data indicate that low-severity fires characterized the 400yr before Euro-American settlement, and that subsequent fire suppression promoted denser forests, recent severe fires, and erosion. Over longer timescales, ... ...

Abstract	In the Jemez Mountains, tree-ring data indicate that low-severity fires characterized the 400yr before Euro-American settlement, and that subsequent fire suppression promoted denser forests, recent severe fires, and erosion. Over longer timescales, climate change may alter fire regimes; thus, we used fire-related alluvial deposits to assess the timing of moderate- to high-severity fires, their geomorphic impact, and relation to climate over the last 4000yr. Fire-related sedimentation does not clearly follow millennial-scale climatic changes, but probability peaks commonly correspond with severe drought, e.g., within the interval 1700â1400calyr BP, and ca. 650 and ca. 410calyr BP. The latter episodes were preceded by prolonged wet intervals that could promote dense stands. Estimated recurrence intervals for fire-related sedimentation are 250â400yr. Climatic differences with aspect influenced Holocene post-fire response: fire-related deposits constitute 77% of fan sediments from north-facing basins but only 39% of deposits from drier southerly aspects. With sparser vegetation and exposed bedrock, south aspects can generate runoff and sediment when unburned, whereas soil-mantled north aspects produce minor sediment unless severely burned. Recent channel incision appears unprecedented over the last 2300yr, suggesting that fuel loading and extreme drought produced an anomalously severe burn in 2002.
Keywords	alluvium ; basins ; bedrock ; climate ; climate change ; drought ; fire regime ; fire suppression ; fires ; forests ; fuel loading ; growth rings ; mountains ; probability ; runoff ; New Mexico
Language	English
Dates of publication	2016-01
Size	p. 75-86.
Publishing place	Elsevier Inc.
Document type	Article
ZDB-ID	205711-6
ISSN	0033-5894
ISSN	0033-5894
DOI	10.1016/j.yqres.2015.11.008
Database	NAL-Catalogue (AGRICOLA)

In stock of ZB MED Bonn / Germany

Z 2010/702: Show issues

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Details ▾
- See ZB MED holdings
- Order with fees

Article: Rootless tephra stratigraphy and emplacement processes.

Hamilton, Christopher W / Fitch, Erin P / Fagents, Sarah A / Thordarson, Thorvaldur

Bulletin of volcanology

2017 Volume 79, Issue 1, Page(s) 11

Abstract: Volcanic rootless cones are the products of thermohydraulic explosions involving rapid heat transfer from active lava (fuel) to external sources of water (coolant). Rootless eruptions are attributed to molten fuel-coolant interactions (MFCIs), but ... ...

Abstract	Volcanic rootless cones are the products of thermohydraulic explosions involving rapid heat transfer from active lava (fuel) to external sources of water (coolant). Rootless eruptions are attributed to molten fuel-coolant interactions (MFCIs), but previous studies have not performed systematic investigations of rootless tephrostratigraphy and grain-size distributions to establish a baseline for evaluating relationships between environmental factors, MFCI efficiency, fragmentation, and patterns of tephra dispersal. This study examines a 13.55-m-thick vertical section through an archetypal rootless tephra sequence, which includes a rhythmic succession of 28 bed pairs. Each bed pair is interpreted to be the result of a discrete explosion cycle, with fine-grained basal material emplaced dominantly as tephra fall during an energetic opening phase, followed by the deposition of coarser-grained material mainly as ballistic ejecta during a weaker coda phase. Nine additional layers are interleaved throughout the stratigraphy and are interpreted to be dilute pyroclastic density current (PDC) deposits. Overall, the stratigraphy divides into four units: unit 1 contains the largest number of sediment-rich PDC deposits, units 2 and 3 are dominated by a rhythmic succession of bed pairs, and unit 4 includes welded layers. This pattern is consistent with a general decrease in MFCI efficiency due to the depletion of locally available coolant (i.e., groundwater or wet sediments). Changing conduit/vent geometries, mixing conditions, coolant and melt temperatures, and/or coolant impurities may also have affected MFCI efficiency, but the rhythmic nature of the bed pairs implies a periodic explosion process, which can be explained by temporary increases in the water-to-lava mass ratio during cycles of groundwater recharge.
Language	English
Publishing date	2017-01-10
Publishing country	Germany
Document type	Journal Article
ZDB-ID	1458483-9
ISSN	1432-0819 ; 0258-8900
ISSN (online)	1432-0819
ISSN	0258-8900
DOI	10.1007/s00445-016-1086-4
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

Order via subito

Details ▾
- Full text online
- Order with fees

Article ; Online: Baseline Sequencing Surveillance of Public Clinical Testing, Hospitals, and Community Wastewater Reveals Rapid Emergence of SARS-CoV-2 Omicron Variant of Concern in Arizona, USA.

mBio

2023 Volume 14, Issue 1, Page(s) e0310122

Abstract: The adaptive evolution of SARS-CoV-2 variants is driven by selection for increased viral fitness in transmissibility and immune evasion. Understanding the dynamics of how an emergent variant sweeps across populations can better inform public health ... ...

Abstract	The adaptive evolution of SARS-CoV-2 variants is driven by selection for increased viral fitness in transmissibility and immune evasion. Understanding the dynamics of how an emergent variant sweeps across populations can better inform public health response preparedness for future variants. Here, we investigated the state-level genomic epidemiology of SARS-CoV-2 through baseline genomic sequencing surveillance of 27,071 public testing specimens and 1,125 hospital inpatient specimens diagnosed between November 1, 2021, and January 31, 2022, in Arizona. We found that the Omicron variant rapidly displaced Delta variant in December 2021, leading to an "Omicron surge" of COVID-19 cases in early 2022. Wastewater sequencing surveillance of 370 samples supported the synchronous sweep of Omicron in the community. Hospital inpatient COVID-19 cases of Omicron variant presented to three major hospitals 10.51 days after its detection from public clinical testing. Nonsynonymous mutations in nsp3, nsp12, and nsp13 genes were significantly associated with Omicron hospital cases compared to community cases. To model SARS-CoV-2 transmissions across the state population, we developed a scalable sequence network methodology and showed that the Omicron variant spread through intracounty and intercounty transmissions. Finally, we demonstrated that the temporal emergence of Omicron BA.1 to become the dominant variant (17.02 days) was 2.3 times faster than the prior Delta variant (40.70 days) or subsequent Omicron sublineages BA.2 (39.65 days) and BA.5 (35.38 days). Our results demonstrate the uniquely rapid sweep of Omicron BA.1. These findings highlight how integrated public health surveillance can be used to enhance preparedness and response to future variants.
MeSH term(s)	Humans ; Arizona/epidemiology ; SARS-CoV-2/genetics ; COVID-19/epidemiology ; Wastewater ; Hospitals ; COVID-19 Testing
Chemical Substances	Wastewater
Language	English
Publishing date	2023-01-09
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	2557172-2
ISSN	2150-7511 ; 2161-2129
ISSN (online)	2150-7511
ISSN	2161-2129
DOI	10.1128/mbio.03101-22
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article: Resource Availability, Propagule Supply, and Effect of Nonnative Ungulate Herbivores on Senecio madagascariensis Invasion1

Questad, Erin J / Amanda Uowolo / Robert Fitch / Sam Brooks / Susan Cordell

Pacific science. 2018 Jan., v. 72, no. 1

2018

Abstract: Nonnative invasive herbivores can create complex biotic interactions by differentially feeding on native and nonnative invasive plant species. The herbivores may act as enemies of nonnative plants and prevent them from becoming invasive, or they may ... ...

Abstract	Nonnative invasive herbivores can create complex biotic interactions by differentially feeding on native and nonnative invasive plant species. The herbivores may act as enemies of nonnative plants and prevent them from becoming invasive, or they may facilitate invasion by having a greater negative impact on native plants compared with nonnative plants. It is also possible that within the same ecosystem nonnative herbivores could either facilitate or inhibit invasion under different abiotic or biotic conditions. In this study we experimentally investigated how abiotic (soil nutrients) and biotic (propagule density) conditions influence the effect of invasive generalist herbivores on Senecio madagascariensis, an invasive plant species in Hawaiian dry forest plant communities. We used fenced exclosures to manipulate presence or absence of invasive ungulates (feral goats and sheep), and we used seed addition to manipulate propagule supply of S. madagascariensis. The experiment was replicated in a recently burned and an unburned site to examine how a resource pulse following fire may alter plant-herbivore interactions. There were very few seeds of S. madagascariensis in the seed rain of both sites, and recruitment was four times higher when seeds were experimentally added, suggesting that S. madagascariensis is dispersal limited in this area. Recruitment of S. madagascariensis was five times higher in the burned site compared to the unburned site, suggesting that increased resources promote recruitment. Recruitment was three times higher when herbivores were present compared to when they were excluded, but plants were much smaller when herbivores were present. We conclude that herbivores can alter S. madagascariensis recruitment, even during dry conditions, and that propagule availability influences where S. madagascariensis can become established.
Keywords	dry forests ; ecosystems ; feral animals ; goats ; herbivores ; indigenous species ; introduced plants ; invasive species ; plant communities ; seed dispersal ; seeds ; Senecio madagascariensis ; sheep ; soil nutrients
Language	English
Dates of publication	2018-01
Size	p. 69-79.
Publishing place	University of Hawai'i Press
Document type	Article
ZDB-ID	2053522-3
ISSN	1534-6188 ; 0030-8870
ISSN (online)	1534-6188
ISSN	0030-8870
DOI	10.2984/72.1.5
Database	NAL-Catalogue (AGRICOLA)

Order via subito

Article ; Online: PTEN somatic mutations contribute to spectrum of cerebral overgrowth.

Brain : a journal of neurology

2021 Volume 144, Issue 10, Page(s) 2971–2978

Abstract: Phosphatase and tensin homologue (PTEN) regulates cell growth and survival through inhibition of the mammalian target of rapamycin (MTOR) signalling pathway. Germline genetic variation of PTEN is associated with autism, macrocephaly and PTEN hamartoma ... ...

Abstract	Phosphatase and tensin homologue (PTEN) regulates cell growth and survival through inhibition of the mammalian target of rapamycin (MTOR) signalling pathway. Germline genetic variation of PTEN is associated with autism, macrocephaly and PTEN hamartoma tumour syndromes. The effect of developmental PTEN somatic mutations on nervous system phenotypes is not well understood, although brain somatic mosaicism of MTOR pathway genes is an emerging cause of cortical dysplasia and epilepsy in the paediatric population. Here we report two somatic variants of PTEN affecting a single patient presenting with intractable epilepsy and hemimegalencephaly that varied in clinical severity throughout the left cerebral hemisphere. High-throughput sequencing analysis of affected brain tissue identified two somatic variants in PTEN. The first variant was present in multiple cell lineages throughout the entire hemisphere and associated with mild cerebral overgrowth. The second variant was restricted to posterior brain regions and affected the opposite PTEN allele, resulting in a segmental region of more severe malformation, and the only neurons in which it was found by single-nuclei RNA-sequencing had a unique disease-related expression profile. This study reveals brain mosaicism of PTEN as a disease mechanism of hemimegalencephaly and furthermore demonstrates the varying effects of single- or bi-allelic disruption of PTEN on cortical phenotypes.
MeSH term(s)	Cerebral Cortex/diagnostic imaging ; Cerebral Cortex/surgery ; Genetic Variation/genetics ; Hemimegalencephaly/diagnostic imaging ; Hemimegalencephaly/genetics ; Hemimegalencephaly/surgery ; Humans ; Infant ; Male ; Mutation/genetics ; PTEN Phosphohydrolase/genetics
Chemical Substances	PTEN Phosphohydrolase (EC 3.1.3.67) ; PTEN protein, human (EC 3.1.3.67)
Language	English
Publishing date	2021-05-28
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	80072-7
ISSN	1460-2156 ; 0006-8950
ISSN (online)	1460-2156
ISSN	0006-8950
DOI	10.1093/brain/awab173
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Ui II Zs.26: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Fat facets and Liquid facets promote Delta endocytosis and Delta signaling in the signaling cells.

Overstreet, Erin / Fitch, Erin / Fischer, Janice A

Development (Cambridge, England)

2004 Volume 131, Issue 21, Page(s) 5355–5366

Abstract: Endocytosis modulates the Notch signaling pathway in both the signaling and receiving cells. One recent hypothesis is that endocytosis of the ligand Delta by the signaling cells is essential for Notch activation in the receiving cells. Here, we present ... ...

Abstract	Endocytosis modulates the Notch signaling pathway in both the signaling and receiving cells. One recent hypothesis is that endocytosis of the ligand Delta by the signaling cells is essential for Notch activation in the receiving cells. Here, we present evidence in strong support of this model. We show that in the developing Drosophila eye Fat facets (Faf), a deubiquitinating enzyme, and its substrate Liquid facets (Lqf), an endocytic epsin, promote Delta internalization and Delta signaling in the signaling cells. We demonstrate that while Lqf is necessary for three different Notch/Delta signaling events at the morphogenetic furrow, Faf is essential only for one: Delta signaling by photoreceptor precluster cells, which prevents recruitment of ectopic neurons. In addition, we show that the ubiquitin-ligase Neuralized (Neur), which ubiquitinates Delta, functions in the signaling cells with Faf and Lqf. The results presented bolster one model for Neur function in which Neur enhances Delta signaling by stimulating Delta internalization in the signaling cells. We propose that Faf plays a role similar to that of Neur in the Delta signaling cells. By deubiquitinating Lqf, which enhances the efficiency of Delta internalization, Faf stimulates Delta signaling.
MeSH term(s)	Animals ; Cell Membrane/metabolism ; Drosophila Proteins/genetics ; Drosophila Proteins/metabolism ; Drosophila melanogaster/cytology ; Drosophila melanogaster/metabolism ; Endocytosis ; Endopeptidases/metabolism ; Eye/cytology ; Eye/metabolism ; Intracellular Signaling Peptides and Proteins ; Membrane Proteins/metabolism ; Mutation/genetics ; Receptors, Notch ; Signal Transduction ; Stem Cells/cytology ; Stem Cells/metabolism ; Ubiquitin-Protein Ligases/metabolism ; Vesicular Transport Proteins/genetics ; Vesicular Transport Proteins/metabolism
Chemical Substances	Drosophila Proteins ; Intracellular Signaling Peptides and Proteins ; Lqf protein, Drosophila ; Membrane Proteins ; N protein, Drosophila ; Receptors, Notch ; Vesicular Transport Proteins ; delta protein ; Ubiquitin-Protein Ligases (EC 2.3.2.27) ; neur protein, Drosophila (EC 2.3.2.27) ; Endopeptidases (EC 3.4.-) ; ubiquitin-Nalpha-protein hydrolase (EC 3.4.99.-)
Language	English
Publishing date	2004-10-06
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	90607-4
ISSN	1477-9129 ; 0950-1991
ISSN (online)	1477-9129
ISSN	0950-1991
DOI	10.1242/dev.01434
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Ub I Zs.183: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MG 91: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article: Somatic

Miller, Katherine E / Koboldt, Daniel C / Schieffer, Kathleen M / Bedrosian, Tracy A / Crist, Erin / Sheline, Adrienne / Leraas, Kristen / Magrini, Vincent / Zhong, Huachun / Brennan, Patrick / Bush, Jocelyn / Fitch, James / Bir, Natalie / Miller, Anthony R / Cottrell, Catherine E / Leonard, Jeffrey / Pindrik, Jonathan A / Rusin, Jerome A / Shah, Summit H /

White, Peter / Wilson, Richard K / Mardis, Elaine R / Pierson, Christopher R / Ostendorf, Adam P

Neurology. Genetics

2020 Volume 6, Issue 4, Page(s) e460

Abstract: Objective: Many genetic studies of intractable epilepsy in pediatric patients primarily focus on inherited, constitutional genetic deficiencies identified in patient blood. Recently, studies have revealed somatic mosaicism associated with epilepsy in ... ...

Abstract	Objective: Many genetic studies of intractable epilepsy in pediatric patients primarily focus on inherited, constitutional genetic deficiencies identified in patient blood. Recently, studies have revealed somatic mosaicism associated with epilepsy in which genetic variants are present only in a subset of brain cells. We hypothesize that tissue-specific, somatic mosaicism represents an important genetic etiology in epilepsy and aim to discover somatic alterations in epilepsy-affected brain tissue. Methods: We have pursued a research study to identify brain somatic mosaicism, using next-generation sequencing (NGS) technologies, in patients with treatment refractory epilepsy who have undergone surgical resection of affected brain tissue. Results: We used an integrated combination of NGS techniques and conventional approaches (radiology, histopathology, and electrophysiology) to comprehensively characterize multiple brain regions from a single patient with intractable epilepsy. We present a 3-year-old male patient with West syndrome and intractable tonic seizures in whom we identified a pathogenic frameshift somatic variant in Conclusions: Our findings support the importance of tissue-based sequencing and highlight a correlation in our patient between
Language	English
Publishing date	2020-06-17
Publishing country	United States
Document type	Journal Article
ZDB-ID	2818607-2
ISSN	2376-7839
ISSN	2376-7839
DOI	10.1212/NXG.0000000000000460
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

To top

Full text online

More links

Kategorien

In stock of ZB MED Bonn / Germany

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Bonn / Germany

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Bonn / Germany

Order via subito

Inter-library loan at ZB MED

Full text online

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito