Miceli F et al. (2015). Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. The Journal of neuroscience : the official journal of the Society for Neuroscience. 35 [PubMed]

See more from authors: Miceli F · Soldovieri MV · Ambrosino P · De Maria M · Migliore M · Migliore R · Taglialatela M

References and models cited by this paper

Ascoli GA, Gasparini S, Medinilla V, Migliore M. (2010). Local control of postinhibitory rebound spiking in CA1 pyramidal neuron dendrites. The Journal of neuroscience : the official journal of the Society for Neuroscience. 30 [PubMed]

Barcia G et al. (2012). De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nature genetics. 44 [PubMed]

Battefeld A, Tran BT, Gavrilis J, Cooper EC, Kole MH. (2014). Heteromeric Kv7.2/7.3 channels differentially regulate action potential initiation and conduction in neocortical myelinated axons. The Journal of neuroscience : the official journal of the Society for Neuroscience. 34 [PubMed]

Bertrand S, Lacaille JC. (2001). Unitary synaptic currents between lacunosum-moleculare interneurones and pyramidal cells in rat hippocampus. The Journal of physiology. 532 [PubMed]

Biervert C et al. (1998). A potassium channel mutation in neonatal human epilepsy. Science (New York, N.Y.). 279 [PubMed]

Borgatti R et al. (2004). A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. Neurology. 63 [PubMed]

Careaga CL, Falke JJ. (1992). Thermal motions of surface alpha-helices in the D-galactose chemosensory receptor. Detection by disulfide trapping. Journal of molecular biology. 226 [PubMed]

Carvill GL et al. (2013). Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nature genetics. 45 [PubMed]

Castaldo P et al. (2004). A novel hyperekplexia-causing mutation in the pre-transmembrane segment 1 of the human glycine receptor alpha1 subunit reduces membrane expression and impairs gating by agonists. The Journal of biological chemistry. 279 [PubMed]

Castaldo P et al. (2002). Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels. The Journal of neuroscience : the official journal of the Society for Neuroscience. 22 [PubMed]

Catterall WA, Kalume F, Oakley JC. (2010). NaV1.1 channels and epilepsy. The Journal of physiology. 588 [PubMed]

Cavaretta JP et al. (2014). Polarized axonal surface expression of neuronal KCNQ potassium channels is regulated by calmodulin interaction with KCNQ2 subunit. PloS one. 9 [PubMed]

Charlier C et al. (1998). A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nature genetics. 18 [PubMed]

Chung HJ, Jan YN, Jan LY. (2006). Polarized axonal surface expression of neuronal KCNQ channels is mediated by multiple signals in the KCNQ2 and KCNQ3 C-terminal domains. Proceedings of the National Academy of Sciences of the United States of America. 103 [PubMed]

Cross JH, Guerrini R. (2013). The epileptic encephalopathies. Handbook of clinical neurology. 111 [PubMed]

Dedek K et al. (2001). Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. Proceedings of the National Academy of Sciences of the United States of America. 98 [PubMed]

Devaux JJ, Kleopa KA, Cooper EC, Scherer SS. (2004). KCNQ2 is a nodal K+ channel. The Journal of neuroscience : the official journal of the Society for Neuroscience. 24 [PubMed]

Du W et al. (2005). Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder. Nature genetics. 37 [PubMed]

Epi4K Consortium et al. (2013). De novo mutations in epileptic encephalopathies. Nature. 501 [PubMed]

Foster TC, Dumas TC. (2001). Mechanism for increased hippocampal synaptic strength following differential experience. Journal of neurophysiology. 85 [PubMed]

Harty RC et al. (2013). Axon initial segment structural plasticity in animal models of genetic and acquired epilepsy. Epilepsy research. 105 [PubMed]

Hines ML, Carnevale NT. (1997). The NEURON simulation environment. Neural computation. 9 [PubMed]

Hu H, Vervaeke K, Graham LJ, Storm JF. (2009). Complementary theta resonance filtering by two spatially segregated mechanisms in CA1 hippocampal pyramidal neurons. The Journal of neuroscience : the official journal of the Society for Neuroscience. 29 [PubMed]

Hu H, Vervaeke K, Storm JF. (2002). Two forms of electrical resonance at theta frequencies, generated by M-current, h-current and persistent Na+ current in rat hippocampal pyramidal cells. The Journal of physiology. 545 [PubMed]

Hu H, Vervaeke K, Storm JF. (2007). M-channels (Kv7/KCNQ channels) that regulate synaptic integration, excitability, and spike pattern of CA1 pyramidal cells are located in the perisomatic region. The Journal of neuroscience : the official journal of the Society for Neuroscience. 27 [PubMed]

Jensen MØ et al. (2012). Mechanism of voltage gating in potassium channels. Science (New York, N.Y.). 336 [PubMed]

Jentsch TJ. (2000). Neuronal KCNQ potassium channels: physiology and role in disease. Nature reviews. Neuroscience. 1 [PubMed]

Kato M et al. (2013). Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia. 54 [PubMed]

Kofuji P et al. (1996). Functional analysis of the weaver mutant GIRK2 K+ channel and rescue of weaver granule cells. Neuron. 16 [PubMed]

Kole MH, Cooper EC. (2014). Axonal Kv7.2/7.3 channels: caught in the act. Channels (Austin, Tex.). 8 [PubMed]

Lamsa K, Irvine EE, Giese KP, Kullmann DM. (2007). NMDA receptor-dependent long-term potentiation in mouse hippocampal interneurons shows a unique dependence on Ca(2+)/calmodulin-dependent kinases. The Journal of physiology. 584 [PubMed]

Lawrence JJ et al. (2006). Somatodendritic Kv7/KCNQ/M channels control interspike interval in hippocampal interneurons. The Journal of neuroscience : the official journal of the Society for Neuroscience. 26 [PubMed]

Lee H, Lin MC, Kornblum HI, Papazian DM, Nelson SF. (2014). Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation. Human molecular genetics. 23 [PubMed]

Liu W, Devaux JJ. (2014). Calmodulin orchestrates the heteromeric assembly and the trafficking of KCNQ2/3 (Kv7.2/3) channels in neurons. Molecular and cellular neurosciences. 58 [PubMed]

Long SB, Tao X, Campbell EB, MacKinnon R. (2007). Atomic structure of a voltage-dependent K+ channel in a lipid membrane-like environment. Nature. 450 [PubMed]

Marcelin B et al. (2009). h channel-dependent deficit of theta oscillation resonance and phase shift in temporal lobe epilepsy. Neurobiology of disease. 33 [PubMed]

Martire M et al. (2004). M channels containing KCNQ2 subunits modulate norepinephrine, aspartate, and GABA release from hippocampal nerve terminals. The Journal of neuroscience : the official journal of the Society for Neuroscience. 24 [PubMed]

Miceli F et al. (2013). Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits. Proceedings of the National Academy of Sciences of the United States of America. 110 [PubMed]

Miceli F et al. (2008). Gating consequences of charge neutralization of arginine residues in the S4 segment of K(v)7.2, an epilepsy-linked K+ channel subunit. Biophysical journal. 95 [PubMed]

Miceli F, Vargas E, Bezanilla F, Taglialatela M. (2012). Gating currents from Kv7 channels carrying neuronal hyperexcitability mutations in the voltage-sensing domain. Biophysical journal. 102 [PubMed]

Migliore M. (2003). On the integration of subthreshold inputs from Perforant Path and Schaffer Collaterals in hippocampal CA1 pyramidal neurons. Journal of computational neuroscience. 14 [PubMed]

Migliore M, Ferrante M, Ascoli GA. (2005). Signal propagation in oblique dendrites of CA1 pyramidal cells. Journal of neurophysiology. 94 [PubMed]

Milligan CJ et al. (2014). KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Annals of neurology. 75 [PubMed]

Minneci F et al. (2007). Signaling properties of stratum oriens interneurons in the hippocampus of transgenic mice expressing EGFP in a subset of somatostatin-containing cells. Hippocampus. 17 [PubMed]

Nava C et al. (2014). De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nature genetics. 46 [PubMed]

Nigro MJ, Mateos-Aparicio P, Storm JF. (2014). Expression and functional roles of Kv7/KCNQ/M-channels in rat medial entorhinal cortex layer II stellate cells. The Journal of neuroscience : the official journal of the Society for Neuroscience. 34 [PubMed]

Novarino G, Baek ST, Gleeson JG. (2013). The sacred disease: the puzzling genetics of epileptic disorders. Neuron. 80 [PubMed]

Orhan G et al. (2014). Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy. Annals of neurology. 75 [PubMed]

Panaghie G, Abbott GW. (2007). The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes. The Journal of general physiology. 129 [PubMed]

Rauch A et al. (2012). Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (London, England). 380 [PubMed]

Robinson RB, Siegelbaum SA. (2003). Hyperpolarization-activated cation currents: from molecules to physiological function. Annual review of physiology. 65 [PubMed]

Rossi P, De Filippi G, Armano S, Taglietti V, D'Angelo E. (1998). The weaver mutation causes a loss of inward rectifier current regulation in premigratory granule cells of the mouse cerebellum. The Journal of neuroscience : the official journal of the Society for Neuroscience. 18 [PubMed]

Saitsu H et al. (2012). Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. Annals of neurology. 72 [PubMed]

Schwarz JR et al. (2006). KCNQ channels mediate IKs, a slow K+ current regulating excitability in the rat node of Ranvier. The Journal of physiology. 573 [PubMed]

Shah MM, Migliore M, Valencia I, Cooper EC, Brown DA. (2008). Functional significance of axonal Kv7 channels in hippocampal pyramidal neurons. Proceedings of the National Academy of Sciences of the United States of America. 105 [PubMed]

Sicca F et al. (2011). Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1. Neurobiology of disease. 43 [PubMed]

Singh NA et al. (1998). A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nature genetics. 18 [PubMed]

Singh NA et al. (2008). Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization. The Journal of physiology. 586 [PubMed]

Soldovieri MV et al. (2014). Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. Human mutation. 35 [PubMed]

Soldovieri MV et al. (2006). Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions. The Journal of biological chemistry. 281 [PubMed]

Soldovieri MV et al. (2007). Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions. The Journal of neuroscience : the official journal of the Society for Neuroscience. 27 [PubMed]

Spruston N, Schiller Y, Stuart G, Sakmann B. (1995). Activity-dependent action potential invasion and calcium influx into hippocampal CA1 dendrites. Science (New York, N.Y.). 268 [PubMed]

Steinlein OK, Conrad C, Weidner B. (2007). Benign familial neonatal convulsions: always benign? Epilepsy research. 73 [PubMed]

Striano P, de Jonghe P, Zara F. (2013). Genetic epileptic encephalopathies: is all written into the DNA? Epilepsia. 54 Suppl 8 [PubMed]

Veeramah KR et al. (2013). Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. Epilepsia. 54 [PubMed]

Vervaeke K, Gu N, Agdestein C, Hu H, Storm JF. (2006). Kv7/KCNQ/M-channels in rat glutamatergic hippocampal axons and their role in regulation of excitability and transmitter release. The Journal of physiology. 576 [PubMed]

Wang HS et al. (1998). KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science (New York, N.Y.). 282 [PubMed]

Weckhuysen S et al. (2013). Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients. Neurology. 81 [PubMed]

Weckhuysen S et al. (2012). KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Annals of neurology. 71 [PubMed]

Yang Y et al. (2013). Multistate structural modeling and voltage-clamp analysis of epilepsy/autism mutation Kv10.2-R327H demonstrate the role of this residue in stabilizing the channel closed state. The Journal of neuroscience : the official journal of the Society for Neuroscience. 33 [PubMed]

Zagotta WN, Aldrich RW. (1990). Voltage-dependent gating of Shaker A-type potassium channels in Drosophila muscle. The Journal of general physiology. 95 [PubMed]

Zaika O, Hernandez CC, Bal M, Tolstykh GP, Shapiro MS. (2008). Determinants within the turret and pore-loop domains of KCNQ3 K+ channels governing functional activity. Biophysical journal. 95 [PubMed]

Zemankovics R, Káli S, Paulsen O, Freund TF, Hájos N. (2010). Differences in subthreshold resonance of hippocampal pyramidal cells and interneurons: the role of h-current and passive membrane characteristics. The Journal of physiology. 588 [PubMed]

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