Article

Perturbation of cortical excitability in a conditional model of PCDH19 disorder

2022-03-22

Abstract excerpt

<title>Abstract</title> <p>PCDH19 epilepsy (DEE9) is an X linked epilepsy syndrome associated to cognitive and behavioural disturbances. Unlike in most other X linked diseases, heterozygous females are affected while hemizygous males are spared. It has been proposed that DEE9 pathogenesis is related to disturbed cell-to-cell communication associated with mosaicism and consequential erroneous network wiring. Howev...

Topics

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

Identifiers and source

Literature Corpus work: fcb2a8ae-fa16-52e6-8f07-80f1e9f0bd30
DOI: 10.21203/rs.3.rs-1435434/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Perturbation of cortical excitability in a conditional model of PCDH19 disorderDOI 10.21203/rs.3.rs-1435434/v1Read

Neuronal network activity and connectivity are impaired in a conditional knockout mouse model with PCDH19 mosaic expressionSemantic proximity Read

Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE).Semantic proximity Read

Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafishSemantic proximity Read

Mosaic and non-mosaic protocadherin 19 mutation leads to neuronal hyperexcitability in zebrafish.Semantic proximity Read

A Rat Model of a Focal Mosaic Expression of PCDH19 Replicates Human Brain Developmental Abnormalities and BehaviorsSemantic proximity Read

Cellular and behavioral characterization of <i>Pcdh19</i> mutant mice: subtle molecular changes, increased exploratory behavior and an impact of social environmentSemantic proximity Read

Cellular and Behavioral Characterization of Pcdh19 Mutant Mice: subtle Molecular Changes, Increased Exploratory Behavior and an Impact of Social Environment.Semantic proximity Read

Characterization of seizure susceptibility in Pcdh19 mice.Semantic proximity Read

Functional analysis of the epilepsy gene <i>Pcdh19</i> using a novel conditional GFP-reporter mouse modelSemantic proximity Read

Molecular characterization of the heterozygous loss of function mutations in the X-linked PCDH19 gene causing PCDH19-Cluster EpilepsySemantic proximity Read

Abnormal cell sorting and altered early neurogenesis in a human cortical organoid model of Protocadherin-19 clustering epilepsySemantic proximity Read

Abnormal cell sorting underlies the unique X-linked inheritance of <i>PCDH19</i> EpilepsySemantic proximity Read