Citation Relationships



Miceli F, Soldovieri MV, Lugli L, Bellini G, Ambrosino P, Migliore M, del Giudice EM, Ferrari F, Pascotto A, Taglialatela M (2009) Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7.2 subunits in a sporadic case of benign familial neonatal seizures. Neurobiol Dis 34:501-10 [PubMed]

   CA1 pyramidal neurons: effects of a Kv7.2 mutation (Miceli et al. 2009)

References and models cited by this paper

References and models that cite this paper

Aggarwal SK, MacKinnon R (1996) Contribution of the S4 segment to gating charge in the Shaker K+ channel. Neuron 16:1169-77 [PubMed]

Alonso-Ron C, de la Peña P, Miranda P, Domínguez P, Barros F (2008) Thermodynamic and kinetic properties of amino-terminal and S4-S5 loop HERG channel mutants under steady-state conditions. Biophys J 94:3893-911 [Journal] [PubMed]

Bezanilla F (2000) The voltage sensor in voltage-dependent ion channels. Physiol Rev 80:555-92 [Journal] [PubMed]

Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, Steinlein OK (1998) A potassium channel mutation in neonatal human epilepsy. Science 279:403-6 [PubMed]

Brown DA, Adams PR (1980) Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone. Nature 283:673-6 [PubMed]

Castaldo P, del Giudice EM, Coppola G, Pascotto A, Annunziato L, Taglialatela M (2002) Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels. J Neurosci 22:RC199 [PubMed]

Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, Leppert M (1998) A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 18:53-5 [Journal] [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. Proc Natl Acad Sci U S A 103:8870-5 [Journal] [PubMed]

Cooper EC, Aldape KD, Abosch A, Barbaro NM, Berger MS, Peacock WS, Jan YN, Jan LY (2000) Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy. Proc Natl Acad Sci U S A 97:4914-9 [Journal] [PubMed]

Dedek K, Kunath B, Kananura C, Reuner U, Jentsch TJ, Steinlein OK (2001) Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. Proc Natl Acad Sci U S A 98:12272-7 [Journal] [PubMed]

Engel J, International League Against Epilepsy (ILAE) (2001) A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 42:796-803 [PubMed]

Gamper N, Stockand JD, Shapiro MS (2005) The use of Chinese hamster ovary (CHO) cells in the study of ion channels. J Pharmacol Toxicol Methods 51:177-85 [Journal] [PubMed]

Halliwell JV, Adams PR (1982) Voltage-clamp analysis of muscarinic excitation in hippocampal neurons. Brain Res 250:71-92 [PubMed]

Heron SE, Cox K, Grinton BE, Zuberi SM, Kivity S, Afawi Z, Straussberg R, Berkovic SF, Scheffer IE, Mulley JC (2007) Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures. J Med Genet 44:791-6 [Journal] [PubMed]

Hines ML, Carnevale NT (1997) The NEURON simulation environment. Neural Comput 9:1179-209 [PubMed]

Howard RJ, Clark KA, Holton JM, Minor DL (2007) Structural insight into KCNQ (Kv7) channel assembly and channelopathy. Neuron 53:663-75 [Journal] [PubMed]

Ishii A, Fukuma G, Uehara A, Miyajima T, Makita Y, Hamachi A, Yasukochi M, Inoue T, Yasumoto S, Okada M, Kaneko S, Mitsudome A, Hirose S (2009) A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions. Brain Dev 31:27-33 [Journal] [PubMed]

Kubisch C, Schroeder BC, Friedrich T, Lütjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ (1999) KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness. Cell 96:437-46 [PubMed]

Lerche C, Scherer CR, Seebohm G, Derst C, Wei AD, Busch AE, Steinmeyer K (2000) Molecular cloning and functional expression of KCNQ5, a potassium channel subunit that may contribute to neuronal M-current diversity. J Biol Chem 275:22395-400 [Journal] [PubMed]

Long SB, Campbell EB, Mackinnon R (2005) Voltage sensor of Kv1.2: structural basis of electromechanical coupling. Science 309:903-8 [Journal] [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 450:376-82 [Journal] [PubMed]

Looney CB, Smith JK, Merck LH, Wolfe HM, Chescheir NC, Hamer RM, Gilmore JH (2007) Intracranial hemorrhage in asymptomatic neonates: prevalence on MR images and relationship to obstetric and neonatal risk factors. Radiology 242:535-41 [Journal] [PubMed]

Miceli F, Soldovieri MV, Hernandez CC, Shapiro MS, Annunziato L, Taglialatela M (2008) Gating consequences of charge neutralization of arginine residues in the S4 segment of K(v)7.2, an epilepsy-linked K+ channel subunit. Biophys J 95:2254-64 [Journal] [PubMed]

Migliore M, Morse TM, Davison AP, Marenco L, Shepherd GM, Hines ML (2003) ModelDB: making models publicly accessible to support computational neuroscience. Neuroinformatics 1:135-9 [Journal] [PubMed]

Miraglia del Giudice E, Coppola G, Scuccimarra G, Cirillo G, Bellini G, Pascotto A (2000) Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor. Eur J Hum Genet 8:994-7 [Journal] [PubMed]

Neubauer BA, Waldegger S, Heinzinger J, Hahn A, Kurlemann G, Fiedler B, Eberhard F, Muhle H, Stephani U, Garkisch S, Eeg-Olofsson O, Müller U, Sander T (2008) KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology 71:177-83 [Journal] [PubMed]

Pan Z, Kao T, Horvath Z, Lemos J, Sul JY, Cranstoun SD, Bennett V, Scherer SS, Cooper EC (2006) A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon. J Neurosci 26:2599-613 [Journal] [PubMed]

Peters HC, Hu H, Pongs O, Storm JF, Isbrandt D (2005) Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior. Nat Neurosci 8:51-60 [Journal] [PubMed]

Plouin P (1994) Benign Familial Neonatal Convulsions Idiopathic Generalized Epilepsies: Clinical, Experimental and Genetic Aspects, Malafosse GP:Hirsch E:Marescaux C:Broglin D:Bernasconi R, ed. pp.39

Rogawski MA (2000) KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: implications for therapy. Trends Neurosci 23:393-8 [PubMed]

Ronen GM, Rosales TO, Connolly M, Anderson VE, Leppert M (1993) Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology 43:1355-60 [PubMed]

Sadewa AH, Sasongko TH, Gunadi , Lee MJ, Daikoku K, Yamamoto A, Yamasaki T, Tanaka S, Matsuo M, Nishio H (2008) Germ-line mutation of KCNQ2, p.R213W, in a Japanese family with benign familial neonatal convulsion. Pediatr Int 50:167-71 [Journal] [PubMed]

Schwake M, Athanasiadu D, Beimgraben C, Blanz J, Beck C, Jentsch TJ, Saftig P, Friedrich T (2006) Structural determinants of M-type KCNQ (Kv7) K+ channel assembly. J Neurosci 26:3757-66 [Journal] [PubMed]

Schwede T, Kopp J, Guex N, Peitsch MC (2003) SWISS-MODEL: An automated protein homology-modeling server. Nucleic Acids Res 31:3381-5 [PubMed]

Shah MM, Migliore M, Valencia I, Cooper EC, Brown DA (2008) Functional significance of axonal Kv7 channels in hippocampal pyramidal neurons. Proc Natl Acad Sci U S A 105:7869-74 [Journal] [PubMed]

   CA1 pyramidal neuron: functional significance of axonal Kv7 channels (Shah et al. 2008) [Model]

Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, Ronen GM, Bjerre I, Quattlebaum T, Murphy JV, McHarg ML, Gagnon D, Rosales TO, Peiffer A, Anderson VE, Leppert M (1998) A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 18:25-9 [Journal] [PubMed]

Soldovieri MV, Castaldo P, Iodice L, Miceli F, Barrese V, Bellini G, Miraglia del Giudice E, Pascotto A, Bonatti S, Annunziato L, Taglialatela M (2006) Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions. J Biol Chem 281:418-28 [Journal] [PubMed]

Soldovieri MV, Cilio MR, Miceli F, Bellini G, Miraglia del Giudice E, Castaldo P, Hernandez CC, Shapiro MS, Pascotto A, Annunziato L, Taglialatela M (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. J Neurosci 27:4919-28 [Journal] [PubMed]

Soldovieri MV, Miceli F, Bellini G, Coppola G, Pascotto A, Taglialatela M (2007) Correlating the clinical and genetic features of benign familial neonatal seizures (BFNS) with the functional consequences of underlying mutations. Channels (Austin) 1:228-33 [PubMed]

Steinlein OK, Conrad C, Weidner B (2007) Benign familial neonatal convulsions: always benign? Epilepsy Res 73:245-9 [Journal] [PubMed]

Wang HS, Pan Z, Shi W, Brown BS, Wymore RS, Cohen IS, Dixon JE, McKinnon D (1998) KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science 282:1890-3 [PubMed]

Wuttke TV, Penzien J, Fauler M, Seebohm G, Lehmann-Horn F, Lerche H, Jurkat-Rott K (2008) Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy. J Physiol 586:545-55 [Journal] [PubMed]

Yue C, Yaari Y (2004) KCNQ/M channels control spike afterdepolarization and burst generation in hippocampal neurons. J Neurosci 24:4614-24 [Journal] [PubMed]

Miceli F, Soldovieri MV, Ambrosino P, Barrese V, Migliore M, Cilio MR, Taglialatela M (2013) Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits. Proc Natl Acad Sci U S A 110:4386-91 [Journal] [PubMed]

   CA1 pyramidal neuron: effects of R213Q and R312W Kv7.2 mutations (Miceli et al. 2013) [Model]

(44 refs)