Article

Cortical interneuron loss and seizure generation as novel clinically relevant disease phenotypes in <i> Cln2 <sup>R207X</sup> </i> mice

2022-03-13

Abstract excerpt

<h4>Aims</h4> CLN2 disease is a fatal inherited childhood neurodegenerative disorder. Although a disease-modifying therapy now exists, a fundamental lack of understanding of disease pathogenesis has hampered development of more effective therapies. To better understand the cellular pathophysiology of CLN2 disease, we investigated the nature and progression of neuropathological and neurological changes in the rece...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1056d70a-5a25-540b-a63d-70f486bab423
DOI: 10.1101/2022.03.11.483984

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Cortical interneuron loss and seizure generation as novel clinically relevant disease phenotypes in <i> Cln2 <sup>R207X</sup> </i> miceDOI 10.1101/2022.03.11.483984Read

Mosaic CDKL5 expression in heterozygous female mice is associated with age- and region- dependent remodeling of inhibitory circuitsSemantic proximity Read

Novel Cln8 p.R24G mouse line replicates major clinical features of Northern epilepsySemantic proximity Read

GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease miceSemantic proximity Read

GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice.Semantic proximity Read

Longitudinal deep phenotyping in a mouse model of West syndrome reveals temporal dynamics of synapse remodeling, gliosis, and proteomic and lipidomic changes during seizure evolutionSemantic proximity Read

Focal cortical dysplasia type II: review of neuropathological manifestations and pathogenetic mechanismsSemantic proximity Read

SEIZURE OCCURRENCE IN FCD TYPE II IS PREDICTED BY LESION POSITION AND LINKED TO CYTOARCHITECTURAL ALTERATIONSSemantic proximity Read

Spinal cord pathology in a Dravet Syndrome mouse modelSemantic proximity Read

Brain Dysfunction in LAMA2-Related Congenital Muscular Dystrophy: Lessons From Human Case Reports and Mouse ModelsSemantic proximity Read

Trem2 Y38C mutation and loss of Trem2 impairs neuronal synapses in adult miceSemantic proximity Read

A Novel Porcine Model of CLN2 Batten Disease that Recapitulates Patient Phenotypes.Semantic proximity Read

An inducible genetic tool for tracking and manipulating specific microglial states in development and diseaseSemantic proximity Read