On the public citation graph

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

https://doi.org/10.1093/brain/awab101
0 signed · 122 inferred · view as graph

Inferred edges come from two machine sources: sweeps of open repository metadata (mostly SSRN and Zenodo), and a bulk OpenAlex citation snapshot. Every row below is labelled with the one it came from. Neither is a complete citation index — absence here is not evidence of absence.

Is this your work? Sign in with ORCID and put your name on the claims that are yours.
Claim with ORCID
Reference health. See whether every reference in this work resolves to a known work and none has been retracted — and get a dated CiteStamped badge you can embed.
See reference health

What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/cne.22567openalex-snapshot
Low-threshold calcium channel subunit Cav3.3 is specifically localized in GABAergic neurons of rodent thalamus and cerebral cortex
inferredcites →https://doi.org/10.1002/glia.10162openalex-snapshot
Expression of voltage‐gated Ca2+ channel subtypes in cultured astrocytes
inferredcites →https://doi.org/10.1002/humu.22844openalex-snapshot
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
inferredcites →https://doi.org/10.1002/humu.23735openalex-snapshot
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F ‐mediated inherited retinal disorders
inferredcites →https://doi.org/10.1002/humu.23798openalex-snapshot
MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains
inferredcites →https://doi.org/10.1002/humu.9491openalex-snapshot
Mutational analysis ofCACNA1Gin idiopathic generalized epilepsy
inferredcites →https://doi.org/10.1007/s00424-009-0772-xopenalex-snapshot
Role of voltage-gated calcium channels in epilepsy
inferredcites →https://doi.org/10.1007/s00424-020-02418-wopenalex-snapshot
De novo CACAN1D Ca2+ channelopathies: clinical phenotypes and molecular mechanism
inferredcites →https://doi.org/10.1007/s00424-020-02429-7openalex-snapshot
Neuronal Cav3 channelopathies: recent progress and perspectives
inferredcites →https://doi.org/10.1007/s00441-014-1849-1openalex-snapshot
Calcium signaling and epilepsy
inferredcites →https://doi.org/10.1016/j.ajhg.2018.09.006openalex-snapshot
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
inferredcites →https://doi.org/10.1016/j.biopsych.2012.05.035openalex-snapshot
Genome-Wide Association Study Implicates HLA-C*01:02 as a Risk Factor at the Major Histocompatibility Complex Locus in Schizophrenia
inferredcites →https://doi.org/10.1016/j.biopsych.2014.11.020openalex-snapshot
CACNA1D De Novo Mutations in Autism Spectrum Disorders Activate Cav1.3 L-Type Calcium Channels
inferredcites →https://doi.org/10.1016/j.biopsych.2015.10.003openalex-snapshot
Reduced Sleep Spindles in Schizophrenia: A Treatable Endophenotype That Links Risk Genes to Impaired Cognition?
inferredcites →https://doi.org/10.1016/j.ceca.2007.04.015openalex-snapshot
L-type calcium channels in adrenal chromaffin cells: Role in pace-making and secretion
inferredcites →https://doi.org/10.1016/j.ceca.2012.01.005openalex-snapshot
Calcium channel types contributing to chromaffin cell excitability, exocytosis and endocytosis
inferredcites →https://doi.org/10.1016/j.cell.2004.09.011openalex-snapshot
CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism
inferredcites →https://doi.org/10.1016/j.cell.2013.06.049openalex-snapshot
Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network
inferredcites →https://doi.org/10.1016/j.cell.2019.06.031openalex-snapshot
Resting-State Structure and Gating Mechanism of a Voltage-Gated Sodium Channel
inferredcites →https://doi.org/10.1016/j.ebiom.2016.10.002openalex-snapshot
CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism
inferredcites →https://doi.org/10.1016/j.mcn.2008.07.012openalex-snapshot
Correlation of T-channel coding gene expression, IT, and the low threshold Ca2+ spike in the thalamus of a rat model of absence epilepsy
inferredcites →https://doi.org/10.1016/j.pediatrneurol.2016.03.012openalex-snapshot
Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De Novo CACNA1A Variant
inferredcites →https://doi.org/10.1016/s0006-3495(02)75164-3openalex-snapshot
Cloning and Expression of the Human T-Type Channel Cav3.3: Insights into Prepulse Facilitation
inferredcites →https://doi.org/10.1021/acschemneuro.9b00031openalex-snapshot
T-Type Channel Druggability at a Crossroads
inferredcites →https://doi.org/10.1038/ejhg.2015.21openalex-snapshot
CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms
inferredcites →https://doi.org/10.1038/nature13595openalex-snapshot
Biological insights from 108 schizophrenia-associated genetic loci
inferredcites →https://doi.org/10.1038/nature19057openalex-snapshot
Analysis of protein-coding genetic variation in 60,706 humans
inferredcites →https://doi.org/10.1038/s41398-020-0685-1openalex-snapshot
Effects of a patient-derived de novo coding alteration of CACNA1I in mice connect a schizophrenia risk gene with sleep spindle deficits
inferredcites →https://doi.org/10.1038/s41586-019-1801-3openalex-snapshot
Cryo-EM structures of apo and antagonist-bound human Cav3.1
inferredcites →https://doi.org/10.1038/s41586-020-2308-7openalex-snapshot
The mutational constraint spectrum quantified from variation in 141,456 humans
inferredcites →https://doi.org/10.1038/srep34233openalex-snapshot
A rare schizophrenia risk variant of CACNA1I disrupts CaV3.3 channel activity
inferredcites →https://doi.org/10.1073/pnas.1105115108openalex-snapshot
The Ca V 3.3 calcium channel is the major sleep spindle pacemaker in thalamus
inferredcites →https://doi.org/10.1074/jbc.c000090200openalex-snapshot
Specific Properties of T-type Calcium Channels Generated by the Human α1I Subunit
inferredcites →https://doi.org/10.1074/jbc.m709832200openalex-snapshot
Sorting of the Neuroendocrine Secretory Protein Secretogranin II into the Regulated Secretory Pathway
inferredcites →https://doi.org/10.1093/brain/awy145openalex-snapshot
De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene
inferredcites →https://doi.org/10.1111/epi.16316openalex-snapshot
Both gain‐of‐function and loss‐of‐function de novo CACNA 1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome
inferredcites →https://doi.org/10.1111/j.1460-9568.2006.04761.xopenalex-snapshot
T‐type Cav3.3 calcium channels produce spontaneous low‐threshold action potentials and intracellular calcium oscillations
inferredcites →https://doi.org/10.1113/jp277487openalex-snapshot
Impaired chromaffin cell excitability and exocytosis in autistic Timothy syndrome TS2‐neo mouse rescued by L‐type calcium channel blockers
inferredcites →https://doi.org/10.1113/jphysiol.2001.013269openalex-snapshot
Specific contribution of human T‐type calcium channel isotypes (α1G, α1H and α1I) to neuronal excitability
inferredcites →https://doi.org/10.1113/jphysiol.2013.264176openalex-snapshot
Mechanisms by which a CACNA1H mutation in epilepsy patients increases seizure susceptibility
inferredcites →https://doi.org/10.1146/annurev-pharmtox-010818-021757openalex-snapshot
Structure and Pharmacology of Voltage-Gated Sodium and Calcium Channels
inferredcites →https://doi.org/10.1152/physrev.00018.2002openalex-snapshot
Molecular Physiology of Low-Voltage-Activated T-type Calcium Channels
inferredcites →https://doi.org/10.1161/hypertensionaha.119.14349openalex-snapshot
Somatic CACNA1H Mutation As a Cause of Aldosterone-Producing Adenoma
inferredcites →https://doi.org/10.1162/neco.1997.9.6.1179openalex-snapshot
The NEURON Simulation Environment
inferredcites →https://doi.org/10.1186/2040-2392-3-18openalex-snapshot
Support for calcium channel gene defects in autism spectrum disorders
inferredcites →https://doi.org/10.1186/s13229-019-0310-4openalex-snapshot
Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder
inferredcites →https://doi.org/10.1186/s41065-017-0037-1openalex-snapshot
Genetic risk between the CACNA1I gene and schizophrenia in Chinese Uygur population
inferredcites →https://doi.org/10.1186/s41065-017-0054-0openalex-snapshot
Further evidence for the genetic association between CACNA1I and schizophrenia
inferredcites →https://doi.org/10.1523/jneurosci.12-10-03804.1992openalex-snapshot
A novel T-type current underlies prolonged Ca(2+)-dependent burst firing in GABAergic neurons of rat thalamic reticular nucleus
inferredcites →https://doi.org/10.1523/jneurosci.15-04-03110.1995openalex-snapshot
Selective increase in T-type calcium conductance of reticular thalamic neurons in a rat model of absence epilepsy
inferredcites →https://doi.org/10.1523/jneurosci.16-01-00169.1996openalex-snapshot
In vivo, in vitro, and computational analysis of dendritic calcium currents in thalamic reticular neurons
inferredcites →https://doi.org/10.1523/jneurosci.22-16-06856.2002openalex-snapshot
Neuronal T-type α1H Calcium Channels Induce Neuritogenesis and Expression of High-Voltage-Activated Calcium Channels in the NG108–15 Cell Line
inferredcites →https://doi.org/10.1523/jneurosci.2662-18.2019openalex-snapshot
Genome-wide association studies of impulsive personality traits (BIS-11 and UPPSP) and drug experimentation in up to 22,861 adult research participants identify loci in the CACNA1I and CADM2 genes
inferredcites →https://doi.org/10.1523/jneurosci.4961-09.2010openalex-snapshot
Loss of Cav1.3 Channels Reveals the Critical Role of L-Type and BK Channel Coupling in Pacemaking Mouse Adrenal Chromaffin Cells
inferredcites →https://doi.org/10.4161/chan.4.6.14106openalex-snapshot
Contributions of T-type calcium channel isoforms to neuronal firing
inferredcites →https://doi.org/10.7554/elife.06315openalex-snapshot
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism
inferredcites →https://doi.org/10.7554/elife.22331openalex-snapshot
Activity-dependent regulation of T-type calcium channels by submembrane calcium ions

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.2139/ssrn.4640265openalex-extracted
Wnt/β-Catenin Signaling Causes Sinoatrial Node Dysfunction by Inhibition of T-type Calcium Current
inferred← citeshttps://doi.org/10.1002/acn3.70238openalex-snapshot
Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies
inferred← citeshttps://doi.org/10.1002/med.70068openalex-snapshot
Molecular Pharmacology of T‐Type Calcium Channels and Their Roles in Neurological Disorders
inferred← citeshttps://doi.org/10.1007/164_2022_626openalex-snapshot
CACNA1D-Related Channelopathies: From Hypertension to Autism
inferred← citeshttps://doi.org/10.1007/164_2022_631openalex-snapshot
CaV3.3 Channelopathies
inferred← citeshttps://doi.org/10.1007/978-3-031-08881-0_21openalex-snapshot
Novel Insights into the Role of Voltage-Gated Calcium Channel Genes in Psychiatric Disorders
inferred← citeshttps://doi.org/10.1007/s00439-022-02502-4openalex-snapshot
Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans
inferred← citeshttps://doi.org/10.1007/s10072-024-07874-1openalex-snapshot
Whole exome sequencing revealed ultra-rare genetic variations in juvenile myoclonic epilepsy
inferred← citeshttps://doi.org/10.1007/s12035-023-03255-5openalex-snapshot
Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes
inferred← citeshttps://doi.org/10.1016/b978-0-443-10944-7.00053-6openalex-snapshot
Emerging Gene-Based Pathways: Channelopathies (Epilepsy and Beyond)
inferred← citeshttps://doi.org/10.1016/j.biomaterials.2026.124248openalex-snapshot
Piezo-metastructured arrays enhance osteoblast mitochondrial quality control to promote osseointegration under osteoporotic conditions
inferred← citeshttps://doi.org/10.1016/j.bpj.2025.10.011openalex-snapshot
Divergent actions of CaV1.1 voltage-sensing domain III in activating EC coupling and channel gating
inferred← citeshttps://doi.org/10.1016/j.ebiom.2023.104928openalex-snapshot
Prioritizing de novo potential non-canonical splicing variants in neurodevelopmental disorders
inferred← citeshttps://doi.org/10.1016/j.gim.2024.101337openalex-snapshot
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND
inferred← citeshttps://doi.org/10.1016/j.jgg.2023.10.006openalex-snapshot
Epigenetic and transcriptional landscapes during cerebral cortex development in a microcephaly mouse model
inferred← citeshttps://doi.org/10.1016/j.neubiorev.2026.106897openalex-snapshot
Thalamic reticular nucleus dysfunction as a stage-dependent integrative circuit mechanism in psychosis
inferred← citeshttps://doi.org/10.1016/j.neuron.2026.02.020openalex-snapshot
Molecular brake on firing pattern transitions in MHbChAT neurons to mediate nicotine-withdrawal-induced anxiety
inferred← citeshttps://doi.org/10.1016/j.neuron.2026.04.032openalex-snapshot
Translatome profiling reveals opposing alterations in inhibitory and excitatory neurons of fragile X mice and identifies EPAC2 as a therapeutic target
inferred← citeshttps://doi.org/10.1016/j.pneurobio.2022.102310openalex-snapshot
Recurrent de novo single point variant on the gene encoding Na+/K+ pump results in epilepsy
inferred← citeshttps://doi.org/10.1016/j.seizure.2022.11.007openalex-snapshot
Intracellular calcium homeostasis and its dysregulation underlying epileptic seizures
inferred← citeshttps://doi.org/10.1017/anr.2024.20openalex-snapshot
Identified candidate genes for pig mental health: Insights from intensive farming systems
inferred← citeshttps://doi.org/10.1021/acsptsci.1c00233openalex-snapshot
Novel Fluorescence-Based High-Throughput FLIPR Assay Utilizing Membrane-Tethered Genetic Calcium Sensors to Identify T-Type Calcium Channel Modulators
inferred← citeshttps://doi.org/10.1038/s41398-022-02137-zopenalex-snapshot
The schizophrenia-associated missense variant rs13107325 regulates dendritic spine density
inferred← citeshttps://doi.org/10.1038/s41467-022-29728-0openalex-snapshot
Structure, gating, and pharmacology of human CaV3.3 channel
inferred← citeshttps://doi.org/10.1038/s41598-023-36503-8openalex-snapshot
Comprehensive analysis of the coding and non-coding RNA transcriptome expression profiles of hippocampus tissue in tx-J animal model of Wilson's disease
inferred← citeshttps://doi.org/10.1038/s41598-023-37535-wopenalex-snapshot
Transcriptomic analysis reveals distinct adaptive molecular mechanism in the hippocampal CA3 from rats susceptible or not-susceptible to hyperthermia-induced seizures
inferred← citeshttps://doi.org/10.1039/d3qo01923copenalex-snapshot
Obscurinin A, a unique Lycopodium alkaloid possessing an 8/6/6/6/5 pentacyclic system isolated from Lycopodium obscurum L.
inferred← citeshttps://doi.org/10.1080/13543776.2026.2713553openalex-snapshot
T-type calcium channel blockers: a review of recent advances (2018–2025)
inferred← citeshttps://doi.org/10.1080/15622975.2024.2436866openalex-snapshot
Systematic review of genome-wide association studies (GWAS) of epilepsy identifies common risk variants and associated genes
inferred← citeshttps://doi.org/10.1093/brain/awab443openalex-snapshot
Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort
inferred← citeshttps://doi.org/10.1093/hmg/ddac248openalex-snapshot
Germline de novo variant F747S extends the phenotypic spectrum ofCACNA1DCa2+ channelopathies
inferred← citeshttps://doi.org/10.1093/hmg/ddaf180openalex-snapshot
The dynamic nature of genetic risk for schizophrenia within genes regulated by FOXP1 during neurodevelopment
inferred← citeshttps://doi.org/10.1101/2021.08.26.457802openalex-snapshot
Recurrent de novo single point mutation on the gene encoding Na + /K + pump results in epilepsy
inferred← citeshttps://doi.org/10.1111/adb.70179openalex-snapshot
Transcriptional Response to Chronic Long‐Access Fentanyl Self‐Administration in Rat Habenula and Amygdala
inferred← citeshttps://doi.org/10.1111/cge.70098openalex-snapshot
A Case of CACNA1I ‐Related Neurodevelopmental Disorder With Dysmorphism and Brain Iron Accumulation: Expanding the Clinical Spectrum
inferred← citeshttps://doi.org/10.1111/jcmm.70123openalex-snapshot
The L‐type calcium channel CaV1.3: A potential target for cancer therapy
inferred← citeshttps://doi.org/10.1111/jnc.15983openalex-snapshot
Voltage‐gated calcium channels in genetic epilepsies
inferred← citeshttps://doi.org/10.1113/jp290131openalex-snapshot
Stac2 genetic deletion alters mouse chromaffin cells’ Ca V channel composition, increases membrane excitability and reduces vesicle exocytosis
inferred← citeshttps://doi.org/10.1152/ajpcell.00647.2024openalex-snapshot
Transcriptional analysis of cancer cachexia: conserved and unique features across preclinical models and biological sex
inferred← citeshttps://doi.org/10.1152/physrev.00063.2021openalex-snapshot
Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
inferred← citeshttps://doi.org/10.1155/ane/7255903openalex-snapshot
Network Analysis Identifies T‐Type Voltage‐Sensitive Calcium Channels, Kainate Receptors and cAMP Signalling Regulators as Potential Mediators Linking the Pathophysiology of Obsessive Compulsive Disorder (OCD) and Dementia
inferred← citeshttps://doi.org/10.1186/s13023-021-01850-0openalex-snapshot
Calcium channelopathies and intellectual disability: a systematic review
inferred← citeshttps://doi.org/10.1186/s13041-024-01152-zopenalex-snapshot
A structural analysis of the splice-specific functional impact of the pathogenic familial hemiplegic migraine type 1 S218L mutation on Cav2.1 P/Q-type channel gating
inferred← citeshttps://doi.org/10.1212/wnl.0000000000214793openalex-snapshot
Child Neurology: Multiple Genetic Etiologies Causing Dandy-Walker Variant With Microcephaly, Epilepsy, and Global Developmental Delay
inferred← citeshttps://doi.org/10.1371/journal.pgen.1011828openalex-snapshot
Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity
inferred← citeshttps://doi.org/10.1523/jneurosci.1544-23.2024openalex-snapshot
The Intellectual Disability Risk GeneKdm5bRegulates Long-Term Memory Consolidation in the Hippocampus
inferred← citeshttps://doi.org/10.3389/fnagi.2022.1033434openalex-snapshot
The identification of the key residues E829 and R845 involved in transient receptor potential melastatin 2 channel gating
inferred← citeshttps://doi.org/10.3389/fnins.2024.1524577openalex-snapshot
Harnessing the potential of human induced pluripotent stem cells, functional assays and machine learning for neurodevelopmental disorders
inferred← citeshttps://doi.org/10.3389/fnmol.2022.892820openalex-snapshot
Investigation of CACNA1I Cav3.3 Dysfunction in Hemiplegic Migraine
inferred← citeshttps://doi.org/10.3389/fnsyn.2021.634760openalex-snapshot
Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function – Implications for Potential Therapies
inferred← citeshttps://doi.org/10.3389/fphar.2025.1613072openalex-snapshot
Electrophysiological classification of CACNA1G gene variants associated with neurodevelopmental and neurological disorders
inferred← citeshttps://doi.org/10.3390/cimb48090931openalex-snapshot
Molecular Mechanisms of Seizure Gating in Sleep-Related Epilepsy: Genes, Channels, Sleep Stages and Circadian Rhythm
inferred← citeshttps://doi.org/10.3390/genes17020157openalex-snapshot
Complexity of Inheritance of Pathogenic Mutations Associated with Epilepsy in Consanguine Families from Pakistan
inferred← citeshttps://doi.org/10.3390/ijms23169049openalex-snapshot
Aberrant Retinal Pigment Epithelial Cells Derived from Induced Pluripotent Stem Cells of a Retinitis Pigmentosa Patient with the PRPF6 Mutation
inferred← citeshttps://doi.org/10.3390/molecules27041312openalex-snapshot
Small Molecules as Modulators of Voltage-Gated Calcium Channels in Neurological Disorders: State of the Art and Perspectives
inferred← citeshttps://doi.org/10.37349/en.2026.1006144openalex-snapshot
Neural glial network instability in epilepsy
inferred← citeshttps://doi.org/10.4103/nrr.nrr-d-23-01766openalex-snapshot
Potassium and calcium channels in different nerve cells act as therapeutic targets in neurological disorders
inferred← citeshttps://doi.org/10.46889/jnor.2025.5304openalex-snapshot
A Study of the Clinical and Genetic Aspects of Familial Epilepsy
inferred← citeshttps://doi.org/10.5765/jkacap.240013openalex-snapshot
Etiology of Borderline Intellectual Functioning
inferred← citeshttps://doi.org/10.6084/m9.figshare.14594112openalex-snapshot
Additional file 1 of Calcium channelopathies and intellectual disability: a systematic review
inferred← citeshttps://doi.org/10.6084/m9.figshare.14594115openalex-snapshot
Additional file 2 of Calcium channelopathies and intellectual disability: a systematic review
inferred← citeshttps://doi.org/10.6084/m9.figshare.14594118openalex-snapshot
Additional file 3 of Calcium channelopathies and intellectual disability: a systematic review
inferred← citeshttps://doi.org/10.64898/2026.08.03.742600openalex-snapshot
Multidirectional Cellular Plasticity in Ewing Sarcoma Reveals a Tumor–CAF Continuum and Novel Immunotherapeutic Targets
inferred← citeshttps://doi.org/10.70121/001c.139041openalex-snapshot
Genetic mutations of voltage-gated ion channels associated with channelopathies
inferred← citeshttps://doi.org/10.7759/cureus.102980openalex-snapshot
Autism Spectrum Disorder Associated With a CACNA1I Variant of Uncertain Significance: A Case Report
Editorial review for independent work. ICSAC — the Institute for Complexity Science and Advanced Computing — runs a structured editorial panel for researchers publishing outside journals, and publishes on CiteStamp rails. Submission is free and goes through ORCID: icsacinstitute.org/submit.