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

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

PloS one - 1 Jan 2013

Pippucci Tommaso, Parmeggiani Antonia, Palombo Flavia, Maresca Alessandra, Angius Andrea, Crisponi Laura, Cucca Francesco, Liguori Rocco, Valentino Maria Lucia, Seri Marco, Carelli Valerio

Abstract excerpt

Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In the same family, a rare CELSR3 polymorphism also segregated with disease. Involvement of CACNA2D2 in EE is therefore not confirmed, while that of CELSR3 is...

Read the complete abstract on PubMed

Topics

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

Share to Calcium Channels
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Infant

Share to Ion channel regulation and function

Share to Mutation

Share to Phenotype

Share to Spasms, Infantile

Source

Open in PubMed Open full text

Identifiers

PMID: 24358150
DOI: 10.1371/journal.pone.0082154
PMCID: PMC3864908

Genes

CELSR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.PMID 24358150Read ↗

entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse.Semantic proximity Read ↗

A biallelic mutation in CACNA2D2 associated with developmental and epileptic encephalopathy affects calcium channel-dependent as well as synaptic functions of α2δ-2.Semantic proximity Read ↗

Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic EpilepsySemantic proximity Read ↗

Biallelic <i>CACNA2D1</i> loss-of-function variants cause early-onset developmental epileptic encephalopathySemantic proximity Read ↗

Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder.Semantic proximity Read ↗

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.Semantic proximity Read ↗

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.Semantic proximity Read ↗

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.Semantic proximity Read ↗

Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsySemantic proximity Read ↗

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disabilitySemantic proximity Read ↗

Cav1.3 (CACNA1D) L‐type Ca2+ channel dysfunction in CNS disordersSemantic proximity Read ↗

EA2 and temporal lobe epilepsy associated with a novel variant in CACNA1A.Semantic proximity Read ↗

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