| 1 | CHRNA4, DEL20Q, KCNQ2
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| Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.
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| Mefford HC, Cook J, Gospe SM Jr.
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| Am J Med Genet A 158A(12):3190-5. doi: 10.1002/ajmg.a.35633. Epub 2012 Nov 19.
2012
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| 2 | KCNQ2, KCNQ3
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| Novel role of KCNQ2/3 channels in regulating neuronal cell viability.
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| Zhou X, Wei J, Song M, Francis K, Yu SP.
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| Cell Death Differ 18(3):493-505. Epub 2010 Oct 1.
2011
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| 3 | KCNQ2, REST
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| Transcriptional repression of the M channel subunit Kv7.2 in chronic nerve injury.
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| Rose K, Ooi L, Dalle C, Robertson B, Wood IC, Gamper N.
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| Pain 152(4):742-54. Epub 2011 Feb 23.
2011
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| 4 | EBN1, KCNQ2
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| A novel degradation signal derived from distal C-terminal frame-shift mutations of KCNQ2 which cause neonatal epilepsy.
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| Su J, Cao X, Wang K.
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| J Biol Chem Biol Chem. 2011 Sep 21. [Epub ahead of print]
2011
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| 5 | EBN1, KCNQ2
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| The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.
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| Yum MS, Ko TS, Yoo HW.
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| J Korean Med Sci 25(2):324-6. Epub 2010 Jan 22.
2010
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| 6 | KCNQ2
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| Calmodulin Activation Limits the Rate of KCNQ2 K+ Channel Exit from the Endoplasmic Reticulum.
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| Alaimo A, Gómez-Posada JC, Aivar P, Etxeberría A, Rodriguez-Alfaro JA, Areso P, Villarroel A.
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| J Biol Chem 284(31):20668-75. Epub 2009 Jun 3.
2009
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| 7 | EBN1, KCNQ2
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| Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.
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| Volkers L, Rook MB, Das JH, Verbeek NE, Groenewegen WA, van Kempen MJ, Lindhout D, Koeleman BP.
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| Neurosci Lett 462(1):24-9. Epub 2009 Jun 25.
2009
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| 8 | KCNQ2, KCNQ3, KCNQ5
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| Functional significance of axonal Kv7 channels in hippocampal pyramidal neurons.
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| Shah MM, Migliore M, Valencia I, Cooper EC, Brown DA.
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| Proc Natl Acad Sci U S A 105(22):7869-74. Epub 2008 May 30. 2008
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| 9 | EBN1, EBN2, KCNQ2, KCNQ3
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| Developmental changes in KCNQ2 and KCNQ3 expression in human brain: possible contribution to the age-dependent etiology of benign familial neonatal convulsions.
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| Kanaumi T, Takashima S, Iwasaki H, Itoh M, Mitsudome A, Hirose S.
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| Brain Dev 30(5):362-9. Epub 2007 Dec 31.PMID: 18166285 2008
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| 10 | KCNQ2, KCNQ3
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| KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes.
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| 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.
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| Neurology 71(3):177-83.PMID: 18625963 2008
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| 11 | DEL20QT, CHRNA4, KCNQ2
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| Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogeneticiens de langue Francaise'.
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| Beri-Deixheimer M, Gregoire MJ, Toutain A, Brochet K, Briault S, Schaff JL, Leheup B, Jonveaux P.
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| Eur J Hum Genet 15(4):446-52. Epub 2007 Feb 7. 2007
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| 12 | KCNQ2, EBN1
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| Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions.
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| Soldovieri MV, Cilio MR, Miceli F, Bellini G, Miraglia del Giudice E, Castaldo P, Hernandez CC, Shapiro MS, Pascotto A, Annunziato L, Taglialatela M.
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| J Neurosci 27(18):4919-28. 2007
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| 13 | KCNQ2, EBN1
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| Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.
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| Heron SE, Cox K, Grinton BE, Zuberi SM, Kivity S, Afawi Z, Straussberg R, Berkovic SF, Scheffer IE, Mulley JC.
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| J Med Genet 44(12):791-6. Epub 2007 Aug 3. 2007
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| 14 | KCNQ2, KCNQ3, EBN1
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| Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions.
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| Soldovieri MV, Castaldo P, Iodice L, Miceli F, Barrese V, Bellini G, Miraglia del Giudice E, Pascotto A, Bonatti S, Annunziato L, Taglialatela M.
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| J Biol Chem 281(1):418-28. Epub 2005 Oct 31. 2006
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| 15 | KCNQ2, EBN1
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| A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.
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| de Haan GJ, Pinto D, Carton D, Bader A, Witte J, Peters E, van Erp G, Vandereyken W, Boezeman E, Wapenaar MC, Boon P, Halley D, Koeleman BP, Lindhout D.
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| Epilepsia 47(5):851-9. 2006
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| 16 | LDB1, KCNQ2, EBN1
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| Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2.
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| Zhou X, Ma A, Liu X, Huang C, Zhang Y, Shi R, Mao S, Geng T, Li S.
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| Eur J Pediatr 165(10):691-5. Epub 2006 May 12. 2006
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| 17 | KCNQ2, EBN1
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| A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.
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| Borgatti R, Zucca C, Cavallini A, Ferrario M, Panzeri C, Castaldo P, Soldovieri MV, Baschirotto C, Bresolin N, Dalla Bernardina B, Taglialatela M, Bassi MT.
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| Neurology 63(1):57-65. 2004
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| 18 | KCNQ2, EBN1
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| De novo KCNQ2 mutations in patients with benign neonatal seizures.
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| Claes LR, Ceulemans B, Audenaert D, Deprez L, Jansen A, Hasaerts D, Weckx S, Claeys KG, Del-Favero J, Van Broeckhoven C, De Jonghe P.
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| Neurology 63(11):2155-8. 2004
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| 19 | EBN1, KCNQ2
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| Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.
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| Dedek K, Fusco L, Teloy N, Steinlein OK.
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| Epilepsy Res 54(1):21-7. 2003
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| 20 | KCNQ2, EBN1
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| A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes.
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| Coppola G, Castaldo P, Miraglia del Giudice E, Bellini G, Galasso F, Soldovieri MV, Anzalone L, Sferro C, Annunziato L, Pascotto A, Taglialatela M.
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| Neurology 61(1):131-4. 2003
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| 21 | EBN1, EBN2, KCNQ2, KCNQ3
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| KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.
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| Singh NA, Westenskow P, Charlier C, Pappas C, Leslie J, Dillon J, Anderson VE, Sanguinetti MC, Leppert MF; BFNC Physician Consortium.
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| Brain 126(Pt 12):2726-37. Epub 2003 Oct 8. 2003
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| 22 | EBN1, EBN2, KCNQ2, KCNQ3
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| Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels.
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| Castaldo P, del Giudice EM, Coppola G, Pascotto A, Annunziato L, Taglialatela M.
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| J Neurosci 22(2):RC199. 2002
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| 23 | EBN1, KCNQ2
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| Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.
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| Dedek K, Kunath B, Kananura C, Reuner U, Jentsch TJ, Steinlein OK.
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| Proc Natl Acad Sci U S A 98(21):12272-7. 2001
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| 24 | KCNQ2
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| Differential expression of kcnq2 splice variants: implications to m current function during neuronal development.
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| Smith JS, Iannotti CA, Dargis P, Christian EP, Aiyar J.
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| J Neurosci 21(4):1096-103. 2001
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| 25 | KCNQ2, KCNQ3
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| Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.
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| Cooper EC, Aldape KD, Abosch A, Barbaro NM, Berger MS, Peacock WS, Jan YN, Jan LY.
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| Proc Natl Acad Sci U S A 97(9):4914-9. 2000
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| 26 | EBN1, KCNQ2
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| A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family.
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| Lee WL, Biervert C, Hallmann K, Tay A, Dean JC, Steinlein OK.
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| Neuropediatrics 31(1):9-12. 2000
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| 27 | EBN1, KCNQ2
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| Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.
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| Miraglia del Giudice E, Coppola G, Scuccimarra G, Cirillo G, Bellini G, Pascotto A.
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| Eur J Hum Genet 8(12):994-7. 2000
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| 28 | KCNQ2, KCNQ3
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| KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: implications for therapy.
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| Rogawski MA.
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| Trends Neurosci 23(9):393-8. Review. 2000
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| 29 | KCNQ2
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| Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.
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| Biervert C, et al.
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| Hum Genet 104(3):234-40. 1999
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| 30 | KCNQ2
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| The voltage gated potassium channel KCNQ2 and idiopathic generalized epilepsy.
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| Steinlein OK, et al.
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| Neuroreport 10(6):1163-6. 1999
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| 31 | KCNQ2, KCNQ3
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| Two types of K(+) channel subunit, Erg1 and KCNQ2/3, contribute to the M-like current in a mammalian neuronal cell.
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| Selyanko AA, Hadley JK, Wood IC, Abogadie FC, Delmas P, Buckley NJ, London B, Brown DA.
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| J Neurosci 19(18):7742-56 1999
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| 32 | EBN1, KCNQ2
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| A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions.
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| Lerche H, Biervert C, Alekov AK, Schleithoff L, Lindner M, Klinger W, Bretschneider F, Mitrovic N, Jurkat-Rott K, Bode H, Lehmann-Horn F, Steinlein OK.
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| Ann Neurol 46(3):305-12. 1999
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| 33 | EBN1, KCNQ2
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| A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
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| 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.
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| Nat Genet 18(1):25-9. 1998
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| 34 | EBN1, KCNQ2
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| A potassium channel mutation in neonatal human epilepsy.
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| Biervert C, et al.
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| Science 279 : 403-406. 1998
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| 35 | EBN1, EBN2, KCNQ2, KCNQ3
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| Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy.
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| Yang WP, Levesque PC, Little WA, Conder ML, Ramakrishnan P, Neubauer MG, Blanar MA.
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| J Biol Chem 273 : 19419-19423. 1998
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| 36 | KCNQ2, KCNQ3
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| KCNQ2 and KCNQ3 potassium channel subunits : molecular correlates of the M-channel.
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| Wang HS, et al.
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| Science 282 : 1890-1893. 1998
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| 37 | EBN1, EBN2, KCNQ2, KCNQ3
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| Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.
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| Schroeder BC, et al.
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| Nature 396 : 687-690. 1998
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| 38 | KCNQ2, KCNQ3
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| The KCNQ2 potassium channel : splice variants, functional and developmental expression. Brain Localization and comparison with KCNQ3.
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| Tinel N, Lauritzen I, Chouabe C, Lazdunski M, Borsotto M.
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| FEBS Lett 438 : 171-176. 1998
|