Related references
Note: Only part of the references are listed.Genetic T-type calcium channelopathies
Norbert Weiss et al.
JOURNAL OF MEDICAL GENETICS (2020)
Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort
Eduarda Morgana da Silva Montenegro et al.
AUTISM RESEARCH (2020)
Genetic associations between voltage-gated calcium channels and autism spectrum disorder: a systematic review
Xiaoli Liao et al.
MOLECULAR BRAIN (2020)
Coupling of autism genes to tissue-wide expression and dysfunction of synapse, calcium signalling and transcriptional regulation
Jamie Reilly et al.
PLOS ONE (2020)
Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2016
Matthew J. Maenner et al.
MMWR SURVEILLANCE SUMMARIES (2020)
The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children
Shasha Long et al.
FRONTIERS IN NEUROLOGY (2019)
Genetic Associations between Voltage-Gated Calcium Channels and Psychiatric Disorders
Arturo Andrade et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort
Dan Bai et al.
JAMA PSYCHIATRY (2019)
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks
Elizabeth K. Ruzzo et al.
CELL (2019)
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Pamela Feliciano et al.
NPJ GENOMIC MEDICINE (2019)
CADD: predicting the deleteriousness of variants throughout the human genome
Philipp Rentzsch et al.
NUCLEIC ACIDS RESEARCH (2019)
Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy
Melissa T. Carter et al.
CHANNELS (2019)
Calcium Channels, Synaptic Plasticity, and Neuropsychiatric Disease
Evanthia Nanou et al.
NEURON (2018)
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder
Atsushi Takata et al.
CELL REPORTS (2018)
Heritability of autism spectrum disorders: a meta-analysis of twin studies
Beata Tick et al.
JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY (2016)
Targeting voltage-gated calcium channels in neurological and psychiatric diseases
Gerald W. Zamponi
NATURE REVIEWS DRUG DISCOVERY (2016)
CACNA1H missense mutations associated with amyotrophic lateral sclerosis alter Ca(v)3.2 T-type calcium channel activity and reticular thalamic neuron firing
Yuriy Rzhepetskyy et al.
CHANNELS (2016)
Pathway Network Analyses for Autism Reveal Multisystem Involvement, Major Overlaps with Other Diseases and Convergence upon MAPK and Calcium Signaling
Ya Wen et al.
PLOS ONE (2016)
From the genetic architecture to synaptic plasticity in autism spectrum disorder
Thomas Bourgeron
NATURE REVIEWS NEUROSCIENCE (2015)
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms
Alissa M. D'Gama et al.
NEURON (2015)
Low load for disruptive mutations in autism genes and their biased transmission
Ivan Iossifov et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders
Samuel Heyes et al.
PROGRESS IN NEUROBIOLOGY (2015)
Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS
Karyn Meltz Steinberg et al.
SCIENTIFIC REPORTS (2015)
Protter: interactive protein feature visualization and integration with experimental proteomic data
Ulrich Omasits et al.
BIOINFORMATICS (2014)
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis et al.
NATURE (2014)
The contribution of de novo coding mutations to autism spectrum disorder
Ivan Iossifov et al.
NATURE (2014)
T-type channel-mediated neurotransmitter release
Emilio Carbone et al.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2014)
Channelopathy pathogenesis in autism spectrum disorders
Galina Schmunk et al.
Frontiers in Genetics (2013)
A Cav3.2/Syntaxin-1A Signaling Complex Controls T-type Channel Activity and Low-threshold Exocytosis
Norbert Weiss et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Calcium channel auxiliary α2δ and β subunits: trafficking and one step beyond
Annette C. Dolphin
NATURE REVIEWS NEUROSCIENCE (2012)
Characterization of the gating brake in the I-II loop of Cav3.2 T-type Ca2+ channels
Imilla I. Arias-Olguin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
The I-II loop controls plasma membrane expression and gating of Cav3.2 T-type Ca2+ channels:: A paradigm for childhood absence epilepsy mutations
Iuliia Vitko et al.
JOURNAL OF NEUROSCIENCE (2007)
CACNA1H mutations in autism spectrum disorders
Igor Splawski et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Functional analysis of Cav3.2 T-type calcium channel mutations linked to childhood absence epilepsy
JB Peloquin et al.
EPILEPSIA (2006)
International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels
WA Catterall et al.
PHARMACOLOGICAL REVIEWS (2005)
Gating effects of mutations in the Cav3.2 T-type calcium channel associated with childhood absence epilepsy
H Khosravani et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Molecular physiology of low-voltage-activated T-type calcium channels
E Perez-Reyes
PHYSIOLOGICAL REVIEWS (2003)
Aspartate residues of the Glu-Glu-Asp-Asp (EEDD) pore locus control selectivity and permeation of the T-type Ca2+ channel α1G
K Talavera et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Overexpression of T-type calcium channels in HEK-293 cells increases intracellular calcium without affecting cellular proliferation
J Chemin et al.
FEBS LETTERS (2000)