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

De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.

Journal of the neurological sciences - 15 Sept 2020

Kunii Misako, Doi Hiroshi, Hashiguchi Shunta, Matsuishi Toyojiro, Sakai Yasunari, Iai Mizue, Okubo Masaki, Nakamura Haruko, Takahashi Keita, Katsumoto Atsuko, Tada Mikiko, Takeuchi Hideyuki, Ishikawa Taro, Miyake Noriko, Saitsu Hirotomo, Matsumoto Naomichi, Tanaka Fumiaki

Abstract excerpt

INTRODUCTION: Variants of CACNA1G, which encodes CaV3.1, have been reported to be associated with various neurological disorders. METHODS: Whole-exome sequencing of genomic DNA from 348 Japanese patients with neurodevelopmental disorders and their parents was conducted, and de novo variants of CACNA1G were extracted. The electrophysiological properties of each mutant channel were investigated by voltage-clamp and...

Read the complete abstract on PubMed

Topics

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

Share to Calcium Channels, T-Type
Share to Cerebellar Ataxia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to HEK293 Cells

Share to Infant, Newborn

Share to Mutation

Share to Phenotype

Share to Spasms, Infantile

Source

Identifiers

PMID: 32736238
DOI: 10.1016/j.jns.2020.117047

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies.PMID 32736238Read ↗

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.Semantic proximity Read ↗

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.Semantic proximity Read ↗

Functional characterization of a novel de novo CACNA1C pathogenic variant in a patient with neurodevelopmental disorder.Semantic proximity Read ↗

A novel de novo CACNA1G variant p.(Arg1553Gln) associated with neurodevelopmental delay and cerebellar hypoplasia: Expanding the phenotypic spectrum.Semantic proximity Read ↗

Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy.Semantic proximity Read ↗

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

Expanding the phenotypic spectrum of CACNA1A-related developmental and epileptic encephalopathy in adults.Semantic proximity Read ↗

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

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.Semantic proximity Read ↗

CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional ImplicationsSemantic proximity Read ↗

CACNA1A Gene Variants in Eight Chinese Patients With a Wide Range of PhenotypesSemantic proximity Read ↗

Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental DelaySemantic proximity Read ↗

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