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Overlaps, gaps, and complexities of mouse models of Developmental and Epileptic Encephalopathy

Neurobiology of disease, 2021-01, Vol.148, p.105220-105220, Article 105220

2021

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KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1

Nature (London), 2017-03, Vol.543 (7645), p.438-442

2017

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The genomic landscape shaped by selection on transposable elements across 18 mouse strains

Genome Biology, 2012-06, Vol.13 (6), p.R45-R45

2012

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PRAS: Predicting functional targets of RNA binding proteins based on CLIP-seq peaks

PLoS computational biology, 2019-08, Vol.15 (8), p.e1007227-e1007227

2019

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Loss of MeCP2 from forebrain excitatory neurons leads to cortical hyperexcitation and seizures

The Journal of neuroscience, 2014-02, Vol.34 (7), p.2754-2763

2014

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CELF4 regulates translation and local abundance of a vast set of mRNAs, including genes associated with regulation of synaptic function

PLoS genetics, 2012-11, Vol.8 (11), p.e1003067-e1003067

2012

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Expression of the Neuronal tRNA n-Tr20 Regulates Synaptic Transmission and Seizure Susceptibility

Neuron (Cambridge, Mass.), 2020-10, Vol.108 (1), p.193-208.e9

2020

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A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice

PLoS genetics, 2010-08, Vol.6 (8), p.e1001046

2010

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Genetics of complex neurological disease: challenges and opportunities for modeling epilepsy in mice and rats

Trends in genetics, 2009-08, Vol.25 (8), p.361-367

Frankel, Wayne N

2009

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A new mode of corticothalamic transmission revealed in the Gria4 −/− model of absence epilepsy

Nature neuroscience, 2011-08, Vol.14 (9), p.1167-1173

2011

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DBA/2J genetic background exacerbates spontaneous lethal seizures but lessens amyloid deposition in a mouse model of Alzheimer's disease

PloS one, 2015-05, Vol.10 (5), p.e0125897-e0125897

2015

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Altered excitatory transmission onto hippocampal interneurons in the IQSEC2 mouse model of X-linked neurodevelopmental disease

Neurobiology of disease, 2020-04, Vol.137, p.104758-104758, Article 104758

2020

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Dynamin 1 isoform roles in a mouse model of severe childhood epileptic encephalopathy

Neurobiology of disease, 2016-11, Vol.95, p.1-11

2016

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Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency

PLoS genetics, 2023-10, Vol.19 (10), p.e1010952-e1010952

2023

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Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice

Brain (London, England : 1878), 2020-07, Vol.143 (7), p.2039-2057

2020

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meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays

PLoS computational biology, 2018-10, Vol.14 (10), p.e1006506-e1006506

2018

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Unraveling genetic modifiers in the gria4 mouse model of absence epilepsy

PLoS genetics, 2014-07, Vol.10 (7), p.e1004454

2014

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Effective knockdown-replace gene therapy in a novel mouse model of DNM1 developmental and epileptic encephalopathy

Molecular therapy, 2024-08

2024

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Independent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic Encephalopathy

PLoS genetics, 2015-06, Vol.11 (6), p.e1005347

2015

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Arfgef1 haploinsufficiency in mice alters neuronal endosome composition and decreases membrane surface postsynaptic GABAA receptors

Neurobiology of disease, 2020-02, Vol.134, p.104632-104632, Article 104632

2020

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enzymatic cascade of Rab5 effectors regulates phosphoinositide turnover in the endocytic pathway

The Journal of cell biology, 2005-08, Vol.170 (4), p.607-618

2005

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Transcriptional profiling of aging in human muscle reveals a common aging signature

PLoS genetics, 2006-07, Vol.2 (7), p.e115-e115

2006

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Enhancing face validity of mouse models of Alzheimer's disease with natural genetic variation

PLoS genetics, 2019-05, Vol.15 (5), p.e1008155-e1008155

2019

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Reduced GABAergic Neuron Excitability, Altered Synaptic Connectivity, and Seizures in a KCNT1 Gain-of-Function Mouse Model of Childhood Epilepsy

Cell reports (Cambridge), 2020-10, Vol.33 (4), p.108303-108303, Article 108303

2020

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Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus

Neurobiology of disease, 2011-03, Vol.41 (3), p.655-660

2011

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Overlaps, gaps, and complexities of mouse models of Developmental and Epileptic Encephalopathy

KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1

The genomic landscape shaped by selection on transposable elements across 18 mouse strains

PRAS: Predicting functional targets of RNA binding proteins based on CLIP-seq peaks

Loss of MeCP2 from forebrain excitatory neurons leads to cortical hyperexcitation and seizures

CELF4 regulates translation and local abundance of a vast set of mRNAs, including genes associated with regulation of synaptic function

Expression of the Neuronal tRNA n-Tr20 Regulates Synaptic Transmission and Seizure Susceptibility

A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice

Genetics of complex neurological disease: challenges and opportunities for modeling epilepsy in mice and rats

A new mode of corticothalamic transmission revealed in the Gria4 −/− model of absence epilepsy

DBA/2J genetic background exacerbates spontaneous lethal seizures but lessens amyloid deposition in a mouse model of Alzheimer's disease

Altered excitatory transmission onto hippocampal interneurons in the IQSEC2 mouse model of X-linked neurodevelopmental disease

Dynamin 1 isoform roles in a mouse model of severe childhood epileptic encephalopathy

Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of HNRNPU haploinsufficiency

Modelling and treating GRIN2A developmental and epileptic encephalopathy in mice

meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays

Unraveling genetic modifiers in the gria4 mouse model of absence epilepsy

Effective knockdown-replace gene therapy in a novel mouse model of DNM1 developmental and epileptic encephalopathy

Independent Neuronal Origin of Seizures and Behavioral Comorbidities in an Animal Model of a Severe Childhood Genetic Epileptic Encephalopathy

Arfgef1 haploinsufficiency in mice alters neuronal endosome composition and decreases membrane surface postsynaptic GABAA receptors

enzymatic cascade of Rab5 effectors regulates phosphoinositide turnover in the endocytic pathway

Transcriptional profiling of aging in human muscle reveals a common aging signature

Enhancing face validity of mouse models of Alzheimer's disease with natural genetic variation

Reduced GABAergic Neuron Excitability, Altered Synaptic Connectivity, and Seizures in a KCNT1 Gain-of-Function Mouse Model of Childhood Epilepsy

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus

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