Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Characterization of seizure susceptibility in Pcdh19 mice.

Epilepsia - 1 Oct 2020

Rakotomamonjy Jennifer, Sabetfakhri Niki P, McDermott Sean L, Guemez-Gamboa Alicia

Abstract excerpt

OBJECTIVE: PCDH19-related epilepsy is characterized by a distinctive pattern of X-linked inheritance, where heterozygous females exhibit seizures and hemizygous males are asymptomatic. A cellular interference mechanism resulting from the presence of both wild-type and mutant PCDH19 neurons in heterozygous patients or mosaic carriers of PCDH19 variants has been hypothesized. We aim to investigate seizure...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cadherins
Share to Electroencephalography
Share to Mice, 129 Strain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mice, Inbred C57BL

Share to Mice, Knockout

Share to Protocadherins

Share to Psychomotor Performance

Share to Seizures

Source

Open in PubMed Open full text

Identifiers

PMID: 32944953
DOI: 10.1111/epi.16675
PMCID: PMC7722218

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of seizure susceptibility in Pcdh19 mice.PMID 32944953Read ↗

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 ↗

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

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

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

Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice.Semantic proximity Read ↗

The Broad Clinical Spectrum of Epilepsies Associated With Protocadherin 19 Gene MutationSemantic proximity Read ↗

Phenotypic and genotypic characteristics of children with PCDH19 clustering epilepsy in China.Semantic proximity Read ↗

PCDH19-clustering epilepsy, pathophysiology and clinical significanceSemantic proximity Read ↗

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

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

⌁Select a neighboring publication to make it the new centre.