scholarly article | Q13442814 |
P356 | DOI | 10.1093/HMG/DDU562 |
P8608 | Fatcat ID | release_khefmrf63jd3nojv6bk2rnssem |
P698 | PubMed publication ID | 25378553 |
P50 | author | Verena C. Wimmer | Q54006040 |
Christopher A Reid | Q56850335 | ||
P2093 | author name string | Steven 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 | |||
P2860 | cites work | Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes | Q24534395 |
Sodium channels SCN1A, SCN2A and SCN3A in familial autism | Q28212831 | ||
Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia | Q28276370 | ||
Existence of distinct sodium channel messenger RNAs in rat brain | Q28566276 | ||
De novo mutations revealed by whole-exome sequencing are strongly associated with autism | Q29547269 | ||
A cre-transgenic mouse strain for the ubiquitous deletion of loxP-flanked gene segments including deletion in germ cells | Q29614542 | ||
Galanin receptor subtype 2 (GalR2) null mutant mice display an anxiogenic-like phenotype specific to the elevated plus-maze | Q30499206 | ||
Exonic splicing enhancer motif recognized by human SC35 under splicing conditions | Q33961789 | ||
Maturation of Layer V Pyramidal Neurons in the Rat Prefrontal Cortex: Intrinsic Properties and Synaptic Function | Q34275039 | ||
Assessing autism-like behavior in mice: variations in social interactions among inbred strains | Q35697120 | ||
Evolutionary convergence of alternative splicing in ion channels | Q35752648 | ||
Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia | Q35798904 | ||
Glutamate receptor 1 phosphorylation at serine 831 and 845 modulates seizure susceptibility and hippocampal hyperexcitability after early life seizures | Q36616652 | ||
Developmental impact of a familial GABAA receptor epilepsy mutation | Q37000441 | ||
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing | Q37083418 | ||
Brain and heart sodium channel subtype mRNA expression in rat cerebral cortex | Q37610971 | ||
Axon initial segment dysfunction in epilepsy | Q37726585 | ||
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 epilepsy | Q39718318 | ||
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 channel | Q40139551 | ||
Molecular diversity of voltage-gated sodium channel alpha and beta subunit mRNAs in human tissues | Q40319744 | ||
A novel polyclonal antibody specific for the Na(v)1.5 voltage-gated Na(+) channel 'neonatal' splice form | Q40383358 | ||
Developmentally regulated alternative RNA splicing of rat brain sodium channel mRNAs | Q40507940 | ||
Differential expression of exon 5 splice variants of sodium channel alpha subunit mRNAs in the developing mouse brain | Q43223676 | ||
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy | Q45212007 | ||
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome | Q45819495 | ||
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 mice | Q48340937 | ||
P433 | issue | 5 | |
P921 | main subject | seizure | Q6279182 |
P304 | page(s) | 1457-1468 | |
P577 | publication date | 2014-11-06 | |
P1433 | published in | Human Molecular Genetics | Q2720965 |
P1476 | title | 'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour | |
P478 | volume | 24 |
Q39353531 | Autism spectrum disorder: neuropathology and animal models |
Q38722862 | Conservation of alternative splicing in sodium channels reveals evolutionary focus on release from inactivation and structural insights into gating |
Q39163038 | De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis |
Q64040232 | Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes |
Q38853247 | Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. |
Q29147423 | Opposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizures |
Q92431684 | Predicting the impact of sodium channel mutations in human brain disease |
Q52565722 | Progress in Understanding and Treating SCN2A-Mediated Disorders. |
Q38825019 | Role of Sodium Channels in Epilepsy |
Q91704914 | SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells? |
Q64998527 | Scn2a Haploinsufficiency in Mice Suppresses Hippocampal Neuronal Excitability, Excitatory Synaptic Drive, and Long-Term Potentiation, and Spatial Learning and Memory. |
Q38403275 | Sodium channel subtypes are differentially localized to pre- and post-synaptic sites in rat hippocampus. |
Q39081430 | The influence of sodium on pathophysiology of multiple sclerosis. |
Q28088603 | Tracks through the genome to physiological events |
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