Human | KLHL1 | 57626 | kelch-like family member 1 | modulatory effect of KLHL1 on the P/Q-type calcium channel function, suggesting a possible novel role for KLHL1 in cellular excitability |
Human | PXK | 54899 | PX domain containing serine/threonine kinase | MONaKA modulates brain Na,K-ATPase by binding tightly to its beta1 and beta3 subunits, and may thereby participate in the regulation of electrical excitability and synaptic transmission [MONaKA] |
Human | CACNA1G | 8913 | calcium channel, voltage-dependent, T type, alpha 1G subunit | Specific contribution of human T-type calcium channel isotypes (alpha(1G), alpha(1H) and alpha(1I)) to neuronal excitability |
Human | STX1A | 6804 | syntaxin 1A (brain) | the mechanisms involved in Syn1A-K(v) interactions vary significantly between K(v) channels, thus providing a wide scope for Syn1A modulation of exocytosis and membrane excitability |
Human | SRC | 6714 | v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog | Regulation of hERG channels by protein tyrosine kinases modifies the channel activity and thus likely alters electrophysiological properties including action potential duration and cell excitability in human heart and neurons |
Human | SLC6A4 | 6532 | solute carrier family 6 (neurotransmitter transporter), member 4 | results suggest that differential excitability of the amygdala to emotional stimuli may contribute to the increased fear and anxiety typically associated with the short SLC6A4 allele |
Human | SCN2A | 6326 | sodium channel, voltage-gated, type II, alpha subunit | analysis of neonatal & adult splice forms of NaV1.2 with a benign familial neonatal-infantile seizures mutation; developmentally regulated NaV1.2 splicing may be one mechanism that counters the normally high excitability of neonatal neurons |
Human | SCN1B | 6324 | sodium channel, voltage-gated, type I, beta subunit | In summary, the mutant beta1 subunits essentially fail to modulate alpha subunits which could increase neuronal excitability and underlie GEFS+ pathogenesis Use of these Na+ channel models in simple neuron models revealed that both mutations(R85C, R85H) cause an increase in excitability but the R85H mutation was more excitable |
Human | LEP | 3952 | leptin | Leptin, via PI 3-kinase-driven activation of BK channels, elicits novel mechanism for controlling neuronal excitability |
Human | KCNMA1 | 3778 | potassium large conductance calcium-activated channel, subfamily M, alpha member 1 | the evolutionarily preserved splicing of the Slo1 S6-RCK1 linker segment possess great potential to fine-tune neuronal excitability common motif in the RCK1 domain of SLO1 mediates the stimulatory effects of both H+ and Ca2+, and provides a basis for the bidirectional coupling of cell metabolism and membrane electrical excitability |
Human | KCNJ2 | 3759 | potassium inwardly-rectifying channel, subfamily J, member 2 | effect of suppressing excitability in single neurons within a network of active hippocampal neurons by overexpressing an inward-rectifier potassium channel |
Human | KCND3 | 3752 | potassium voltage-gated channel, Shal-related subfamily, member 3 | the mechanisms involved in Syn1A-K(v) interactions vary significantly between K(v) channels, thus providing a wide scope for Syn1A modulation of exocytosis and membrane excitability |
Human | KCND2 | 3751 | potassium voltage-gated channel, Shal-related subfamily, member 2 | Electrophysiological analysis indicates attenuated K+ current density in cells expressing this Kv4.2-N587fsX1 mutant channel, which is consistent with a model of aberrant neuronal excitability characteristic of TLE |
Human | KCNA3 | 3738 | potassium voltage-gated channel, shaker-related subfamily, member 3 | The Kv1.3 potassium channel, postsynaptic density protein 95, and insulin receptor serine kinase co-localize to regulate membrane excitability and synaptic transmission at critical locations in the olfactory bulb |
Human | KCNA1 | 3736 | potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) | coupling between calcium influx and inactivation of voltage-gated A-type K+ channels occurs as a result of membrane depolarization and may contribute to afterhyperpolarization as negative feedback to control neuronal excitability |
Human | INSR | 3643 | insulin receptor | Insulin receptor serine kinase, PSD-95, and the Kv1.3 potassium channel co-localize to regulate membrane excitability and synaptic transmission at critical locations in the olfactory bulb |
Human | GRM1 | 2911 | glutamate receptor, metabotropic 1 | In patients with mesial temporal lobe epilepsy, mGluR1 may increase hippocampal excitability through postsynaptic activation |
Human | GPR35 | 2859 | G protein-coupled receptor 35 | The results of the study demonstrate the coupling of GPR35 to endogenous G proteins that modulate neuronal Ca2+ channel and thereby provide evidence for a potential role of GPR35 in regulating neuronal excitability and synaptic transmission |
Human | GABRE | 2564 | gamma-aminobutyric acid (GABA) A receptor, epsilon | Increased intracortical excitability is noted in subjects affected by the GABA A receptor gamma 2 subunit (GABRG2 Arg43Glu) mutation; findings are likely to represent an important clue to mechanisms linking this gene defect and the epilepsy phenotype |
Human | FECH | 2235 | ferrochelatase | results highlight a novel, profilin2-dependent pathway, regulating synaptic physiology, neuronal excitability, and complex behavior |
Human | CTTN | 2017 | cortactin | cortactin-mediated actin remodeling in excitable cells is not only important for cell structure, but may directly impact membrane excitability |
Human | DLG4 | 1742 | discs, large homolog 4 (Drosophila) | PSD-95, the Kv1.3 potassium channel, and insulin receptor serine kinase co-localize to regulate membrane excitability and synaptic transmission at critical locations in the olfactory bulb |
Human | CLCN2 | 1181 | chloride channel, voltage-sensitive 2 | propose that the function of the ClC-2 carboxy-terminus is to slow down the time course of channel activation in order to stabilize neuronal excitability |
Human | APP | 351 | amyloid beta (A4) precursor protein | Aberrant increases in network excitability and compensatory inhibitory mechanisms in the hippocampus may contribute to Abeta-induced neurological deficits in hAPP mice and, possibly, also in humans with AD |
Human | APOE | 348 | apolipoprotein E | The data suggest that neurophysiological endophenotype of non-demented individuals at genetic risk for AD, characterized by increased excitability and dysfunction of deep brain and alpha rhythm-generating structures |