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Channelopathy pathogenesis in autism spectrum disorders
scientific article
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scholarly article
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stated in
PubMed
title
Channelopathy pathogenesis in autism spectrum disorders
(English)
1 reference
stated in
PubMed
main subject
pathogenesis
1 reference
based on heuristic
inferred from title
autism spectrum disorder
0 references
autism
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author name string
Galina Schmunk
series ordinal
1
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stated in
Crossref
J. Jay Gargus
series ordinal
2
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stated in
Crossref
language of work or name
English
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stated in
PubMed
publication date
5 November 2013
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stated in
PubMed
published in
Frontiers in Genetics
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stated in
Crossref
volume
4
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stated in
PubMed
page(s)
222
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stated in
PubMed
cites work
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Metabotropic glutamate receptor 6 signaling enhances TRPM1 calcium channel function and increases melanin content in human melanocytes
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Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder
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Alterations of GABAergic signaling in autism spectrum disorders
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Common circuit defect of excitatory-inhibitory balance in mouse models of autism
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The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia
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High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene
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Hotspots of biased nucleotide substitutions in human genes
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Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death
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Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.
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KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel
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An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness
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De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP
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21 March 2017
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
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21 March 2017
Isolation of a novel potassium channel gene hSKCa3 containing a polymorphic CAG repeat: a candidate for schizophrenia and bipolar disorder?
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Sodium channels SCN1A, SCN2A and SCN3A in familial autism
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Evolution and diversity of mammalian sodium channel genes
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Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders
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SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects
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Sigma-1 receptor chaperones at the ER-mitochondrion interface regulate Ca(2+) signaling and cell survival
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Confirmation of association between autism and the mitochondrial aspartate/glutamate carrier SLC25A12 gene on chromosome 2q31
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21 March 2017
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine
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21 March 2017
Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism
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MeCP2 controls excitatory synaptic strength by regulating glutamatergic synapse number
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Disruption of KCC2 reveals an essential role of K-Cl cotransport already in early synaptic inhibition
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Functional coupling of the metabotropic glutamate receptor, InsP3 receptor and L-type Ca2+ channel in mouse CA1 pyramidal cells
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Differential roles of NR2A and NR2B-containing NMDA receptors in LTP and LTD in the CA1 region of two-week old rat hippocampus
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BAD and glucokinase reside in a mitochondrial complex that integrates glycolysis and apoptosis
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Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
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De Novo Gene Disruptions in Children on the Autistic Spectrum
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A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells
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Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes
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Changes in prevalence of parent-reported autism spectrum disorder in school-aged U.S. children: 2007 to 2011-2012.
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Autism genetics.
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28 September 2017
Excitatory/inhibitory synaptic imbalance leads to hippocampal hyperexcitability in mouse models of tuberous sclerosis
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28 September 2017
The evidence for association of ATP2B2 polymorphisms with autism in Chinese Han population
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28 September 2017
Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders
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28 September 2017
Enhanced asynchronous Ca(2+) oscillations associated with impaired glutamate transport in cortical astrocytes expressing Fmr1 gene premutation expansion
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28 September 2017
FMRP regulates neurotransmitter release and synaptic information transmission by modulating action potential duration via BK channels
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28 September 2017
The amygdala excitatory/inhibitory balance in a valproate-induced rat autism model
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28 September 2017
Focal Scn1a knockdown induces cognitive impairment without seizures
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28 September 2017
Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons
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28 September 2017
Support for calcium channel gene defects in autism spectrum disorders
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28 September 2017
A randomised controlled trial of bumetanide in the treatment of autism in children
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28 September 2017
Reduced axonal localization of a Caps2 splice variant impairs axonal release of BDNF and causes autistic-like behavior in mice.
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Predicting the diagnosis of autism spectrum disorder using gene pathway analysis
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Autistic-like behaviour in Scn1a+/- mice and rescue by enhanced GABA-mediated neurotransmission.
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Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice
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Genes associated with autism spectrum disorder
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Signaling defects in iPSC-derived fragile X premutation neurons
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28 September 2017
A common susceptibility factor of both autism and epilepsy: functional deficiency of GABA A receptors
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28 September 2017
The GABA excitatory/inhibitory shift in brain maturation and neurological disorders
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The brain GABA-benzodiazepine receptor alpha-5 subtype in autism spectrum disorder: a pilot [(11)C]Ro15-4513 positron emission tomography study
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28 September 2017
Mitochondrial and ion channel gene alterations in autism.
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28 September 2017
Fragile X syndrome: mechanistic insights and therapeutic avenues regarding the role of potassium channels.
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28 September 2017
Genetic architecture in autism spectrum disorder
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28 September 2017
Molecular and cellular aspects of mental retardation in the Fragile X syndrome: from gene mutation/s to spine dysmorphogenesis
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28 September 2017
Reduced Chrna7 expression in mice is associated with decreases in hippocampal markers of inhibitory function: implications for neuropsychiatric diseases
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28 September 2017
Ca2+ signaling amplification by oligomerization of L-type Cav1.2 channels
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28 September 2017
Disrupted Homer scaffolds mediate abnormal mGluR5 function in a mouse model of fragile X syndrome
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28 September 2017
Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations.
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28 September 2017
Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome
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28 September 2017
Glutamate receptor RNA editing in health and disease
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28 September 2017
Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome
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28 September 2017
New advances in NMDA receptor pharmacology
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28 September 2017
Genome-wide activity-dependent MeCP2 phosphorylation regulates nervous system development and function
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28 September 2017
Dravet syndrome: patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects
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28 September 2017
Mouse model of Timothy syndrome recapitulates triad of autistic traits.
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PubMed Central
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28 September 2017
Prader-Willi syndrome and autism spectrum disorders: an evolving story
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28 September 2017
15q11.2-13.3 chromatin analysis reveals epigenetic regulation of CHRNA7 with deficiencies in Rett and autism brain.
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PubMed Central
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28 September 2017
Loss of activity-induced phosphorylation of MeCP2 enhances synaptogenesis, LTP and spatial memory
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PubMed Central
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28 September 2017
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology
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28 September 2017
Voltage-gated calcium channels and disease
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28 September 2017
The mitochondrial aspartate/glutamate carrier AGC1 and calcium homeostasis: physiological links and abnormalities in autism
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28 September 2017
Timothy mutation disrupts the link between activation and inactivation in Ca(V)1.2 protein
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28 September 2017
A quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders
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28 September 2017
mGluR5 and NMDA receptors drive the experience- and activity-dependent NMDA receptor NR2B to NR2A subunit switch
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PubMed Central
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28 September 2017
Fragile X mental retardation protein regulates protein expression and mRNA translation of the potassium channel Kv4.2.
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28 September 2017
Defining protein kinase/phosphatase isoenzymic regulation of mGlu₅ receptor-stimulated phospholipase C and Ca²⁺ responses in astrocytes
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28 September 2017
Autism spectrum disorders and autistic traits: a decade of new twin studies
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28 September 2017
A CAG repeat polymorphism of KCNN3 predicts SK3 channel function and cognitive performance in schizophrenia
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28 September 2017
A population genetic approach to mapping neurological disorder genes using deep resequencing
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28 September 2017
Short-term forms of presynaptic plasticity
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28 September 2017
Maternally derived microduplications at 15q11-q13: implication of imprinted genes in psychotic illness
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28 September 2017
Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndrome
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28 September 2017
Disrupting function of FK506-binding protein 1b/12.6 induces the Ca²+-dysregulation aging phenotype in hippocampal neurons
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28 September 2017
Regulation of the mutually exclusive exons 8a and 8 in the CaV1.2 calcium channel transcript by polypyrimidine tract-binding protein
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28 September 2017
Allosteric modulation of related ligand-gated ion channels synergistically induces long-term potentiation in the hippocampus and enhances cognition
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28 September 2017
Mechanistic models for muscle diseases and disorders originating in the sarcoplasmic reticulum
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28 September 2017
Rapamycin for treating Tuberous sclerosis and Autism spectrum disorders
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28 September 2017
The role of calcium-dependent gene expression in autism spectrum disorders: lessons from MeCP2, Ube3a and beyond
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28 September 2017
Neurodevelopmental disorders involving genomic imprinting at human chromosome 15q11-q13.
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28 September 2017
CaV2.1 channelopathies
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28 September 2017
Ryanodine receptor channelopathies
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28 September 2017
CRAC channelopathies
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28 September 2017
Direct control of mitochondrial function by mTOR.
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28 September 2017
Dysregulation of mTOR signaling in fragile X syndrome
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28 September 2017
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness
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PubMed Central
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28 September 2017
Genetic calcium signaling abnormalities in the central nervous system: seizures, migraine, and autism
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28 September 2017
Removal of FKBP12 enhances mTOR-Raptor interactions, LTP, memory, and perseverative/repetitive behavior
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3817418
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28 September 2017
E-I balance and human diseases - from molecules to networking.
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28 September 2017
Multiple roles of calcium ions in the regulation of neurotransmitter release
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28 September 2017
Why migraines strike
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28 September 2017
Mitochondria: the hub of cellular Ca2+ signaling
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3817418
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28 September 2017
The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3817418
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28 September 2017
High- and low-calcium-dependent mechanisms of mitochondrial calcium signalling
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28 September 2017
Novel mutation confirms seizure locus SCN1A is also familial hemiplegic migraine locus FHM3
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28 September 2017
GABA(A) receptors: structure and function in the basal ganglia
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28 September 2017
Cellular basis for the electrocardiographic and arrhythmic manifestations of Timothy syndrome: effects of ranolazine
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3817418
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28 September 2017
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation
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28 September 2017
Verapamil decreases ventricular tachyarrhythmias in a patient with Timothy syndrome (LQT8).
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28 September 2017
A carboxyl-terminal hydrophobic interface is critical to sodium channel function. Relevance to inherited disorders.
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28 September 2017
Ion channel functional candidate genes in multigenic neuropsychiatric disease
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28 September 2017
Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3817418
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28 September 2017
GABAA receptor subtypes: any clues to the mechanism of benzodiazepine dependence?
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28 September 2017
Calmodulin mediates Ca2+ sensitivity of sodium channels
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3817418
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28 September 2017
Inositol 1,4,5-trisphosphate receptors as signal integrators
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28 September 2017
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates
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28 September 2017
Unraveling monogenic channelopathies and their implications for complex polygenic disease
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28 September 2017
Neurochemical and molecular pharmacological aspects of the GABA(B) receptor
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28 September 2017
Chronic pharmacological mGlu5 inhibition corrects fragile X in adult mice.
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31 May 2018
Restoration of normal L-type Ca2+ channel function during Timothy syndrome by ablation of an anchoring protein
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31 May 2018
Loss of Tsc1 in vivo impairs hippocampal mGluR-LTD and increases excitatory synaptic function
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31 May 2018
Behavioural and cognitive abnormalities in an imprinting centre deletion mouse model for Prader-Willi syndrome
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31 May 2018
Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder
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31 May 2018
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.
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31 May 2018
Contributions of quisqualate and NMDA receptors to the induction and expression of LTP.
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31 May 2018
Identification of single gene deletions at 15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype.
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28 November 2018
The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families.
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28 November 2018
Prader-Willi syndrome.
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28 November 2018
Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome
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28 November 2018
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome
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28 November 2018
Abnormal presynaptic short-term plasticity and information processing in a mouse model of fragile X syndrome.
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28 November 2018
Converging evidence for an association of ATP2B2 allelic variants with autism in male subjects.
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28 November 2018
Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.
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28 November 2018
1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay.
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28 November 2018
Effects of a CACNA1C genotype on attention networks in healthy individuals
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28 November 2018
Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.
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28 November 2018
Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.
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28 November 2018
Mitochondrial aspartate/glutamate carrier SLC25A12 gene is associated with autism
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3817418
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28 November 2018
Remodelling of the respiratory network in a mouse model of Rett syndrome depends on brain-derived neurotrophic factor regulated slow calcium buffering.
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28 November 2018
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.
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28 November 2018
Altered calcium homeostasis in autism-spectrum disorders: evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1.
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28 November 2018
CACNA1H mutations in autism spectrum disorders.
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28 November 2018
Enhanced ryanodine receptor recruitment contributes to Ca2+ disruptions in young, adult, and aged Alzheimer's disease mice.
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28 November 2018
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Role of NMDA receptor subtypes in governing the direction of hippocampal synaptic plasticity
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Intracellular injections of EGTA block induction of hippocampal long-term potentiation.
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Molecular genetics of long QT syndrome
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https://pubmed.ncbi.nlm.nih.gov/24204377
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Identifiers
DOI
10.3389/FGENE.2013.00222
0 references
PMCID
3817418
1 reference
stated in
PubMed
PubMed ID
24204377
1 reference
stated in
PubMed
ResearchGate publication ID
258350476
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