'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour

scientific article published on 6 November 2014

'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1093/HMG/DDU562
P8608Fatcat IDrelease_khefmrf63jd3nojv6bk2rnssem
P698PubMed publication ID25378553

P50authorVerena C. WimmerQ54006040
Christopher A ReidQ56850335
P2093author name stringSteven Petrou
Kay L Richards
Leonid Churilov
Tae H Kim
Elena V Gazina
Bryan T W Leaw
Timothy D Aumann
Travis J Featherby
Vicki E Hammond
P2860cites workAccurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genesQ24534395
Sodium channels SCN1A, SCN2A and SCN3A in familial autismQ28212831
Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root gangliaQ28276370
Existence of distinct sodium channel messenger RNAs in rat brainQ28566276
De novo mutations revealed by whole-exome sequencing are strongly associated with autismQ29547269
A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cellsQ29614542
Galanin receptor subtype 2 (GalR2) null mutant mice display an anxiogenic-like phenotype specific to the elevated plus-mazeQ30499206
Exonic splicing enhancer motif recognized by human SC35 under splicing conditionsQ33961789
Maturation of Layer V Pyramidal Neurons in the Rat Prefrontal Cortex: Intrinsic Properties and Synaptic FunctionQ34275039
Assessing autism-like behavior in mice: variations in social interactions among inbred strainsQ35697120
Evolutionary convergence of alternative splicing in ion channelsQ35752648
Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmiaQ35798904
Glutamate receptor 1 phosphorylation at serine 831 and 845 modulates seizure susceptibility and hippocampal hyperexcitability after early life seizuresQ36616652
Developmental impact of a familial GABAA receptor epilepsy mutationQ37000441
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencingQ37083418
Brain and heart sodium channel subtype mRNA expression in rat cerebral cortexQ37610971
Axon initial segment dysfunction in epilepsyQ37726585
Voltage-gated sodium channel organization in neurons: protein interactions and trafficking pathways.Q37785312
Clinical spectrum of SCN2A mutations.Q37949707
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsyQ39718318
Heat opens axon initial segment sodium channels: a febrile seizure mechanism?Q39801265
A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channelQ40139551
Molecular diversity of voltage-gated sodium channel alpha and beta subunit mRNAs in human tissuesQ40319744
A novel polyclonal antibody specific for the Na(v)1.5 voltage-gated Na(+) channel 'neonatal' splice formQ40383358
Developmentally regulated alternative RNA splicing of rat brain sodium channel mRNAsQ40507940
Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brainQ43223676
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathyQ45212007
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndromeQ45819495
Distinct contributions of Na(v)1.6 and Na(v)1.2 in action potential initiation and backpropagation.Q45919318
Increased anxiety-like behavior in neuropsin (kallikrein-related peptidase 8) gene-deficient miceQ48340937
P433issue5
P921main subjectseizureQ6279182
P304page(s)1457-1468
P577publication date2014-11-06
P1433published inHuman Molecular GeneticsQ2720965
P1476title'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour
P478volume24

Reverse relations

cites work (P2860)
Q39353531Autism spectrum disorder: neuropathology and animal models
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Q39163038De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis
Q64040232Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
Q38853247Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Q29147423Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures
Q92431684Predicting the impact of sodium channel mutations in human brain disease
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Q38825019Role of Sodium Channels in Epilepsy
Q91704914SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells?
Q64998527Scn2a Haploinsufficiency in Mice Suppresses Hippocampal Neuronal Excitability, Excitatory Synaptic Drive, and Long-Term Potentiation, and Spatial Learning and Memory.
Q38403275Sodium channel subtypes are differentially localized to pre- and post-synaptic sites in rat hippocampus.
Q39081430The influence of sodium on pathophysiology of multiple sclerosis.
Q28088603Tracks through the genome to physiological events

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