Citations for
1EBN1, KCNQ2
A novel degradation signal derived from distal C-terminal frame-shift mutations of KCNQ2 which cause neonatal epilepsy.
Su J, Cao X, Wang K.
J Biol Chem Biol Chem. 2011 Sep 21. [Epub ahead of print] 2011
2EBN1, KCNQ2
The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions.
Yum MS, Ko TS, Yoo HW.
J Korean Med Sci 25(2):324-6. Epub 2010 Jan 22. 2010
3EBN1, KCNQ2
Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.
Volkers L, Rook MB, Das JH, Verbeek NE, Groenewegen WA, van Kempen MJ, Lindhout D, Koeleman BP.
Neurosci Lett 462(1):24-9. Epub 2009 Jun 25. 2009
4EBN1, EBN2, KCNQ2, KCNQ3
Developmental changes in KCNQ2 and KCNQ3 expression in human brain: possible contribution to the age-dependent etiology of benign familial neonatal convulsions.
Kanaumi T, Takashima S, Iwasaki H, Itoh M, Mitsudome A, Hirose S.
Brain Dev 30(5):362-9. Epub 2007 Dec 31.PMID: 18166285 2008
5KCNQ2, EBN1
Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions.
Soldovieri MV, Cilio MR, Miceli F, Bellini G, Miraglia del Giudice E, Castaldo P, Hernandez CC, Shapiro MS, Pascotto A, Annunziato L, Taglialatela M.
J Neurosci 27(18):4919-28. 2007
6KCNQ2, EBN1
Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.
Heron SE, Cox K, Grinton BE, Zuberi SM, Kivity S, Afawi Z, Straussberg R, Berkovic SF, Scheffer IE, Mulley JC.
J Med Genet 44(12):791-6. Epub 2007 Aug 3. 2007
7KCNQ2, KCNQ3, EBN1
Decreased subunit stability as a novel mechanism for potassium current impairment by a KCNQ2 C terminus mutation causing benign familial neonatal convulsions.
Soldovieri MV, Castaldo P, Iodice L, Miceli F, Barrese V, Bellini G, Miraglia del Giudice E, Pascotto A, Bonatti S, Annunziato L, Taglialatela M.
J Biol Chem 281(1):418-28. Epub 2005 Oct 31. 2006
8KCNQ2, EBN1
A novel splicing mutation in KCNQ2 in a multigenerational family with BFNC followed for 25 years.
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.
Epilepsia 47(5):851-9. 2006
9LDB1, KCNQ2, EBN1
Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2.
Zhou X, Ma A, Liu X, Huang C, Zhang Y, Shi R, Mao S, Geng T, Li S.
Eur J Pediatr 165(10):691-5. Epub 2006 May 12. 2006
10KCNQ2, EBN1
A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.
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.
Neurology 63(1):57-65. 2004
11KCNQ2, EBN1
De novo KCNQ2 mutations in patients with benign neonatal seizures.
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.
Neurology 63(11):2155-8. 2004
12EBN1, KCNQ2
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.
Dedek K, Fusco L, Teloy N, Steinlein OK.
Epilepsy Res 54(1):21-7. 2003
13KCNQ2, EBN1
A novel KCNQ2 K+ channel mutation in benign neonatal convulsions and centrotemporal spikes.
Coppola G, Castaldo P, Miraglia del Giudice E, Bellini G, Galasso F, Soldovieri MV, Anzalone L, Sferro C, Annunziato L, Pascotto A, Taglialatela M.
Neurology 61(1):131-4. 2003
14EBN1, EBN2, KCNQ2, KCNQ3
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.
Singh NA, Westenskow P, Charlier C, Pappas C, Leslie J, Dillon J, Anderson VE, Sanguinetti MC, Leppert MF; BFNC Physician Consortium.
Brain 126(Pt 12):2726-37. Epub 2003 Oct 8. 2003
15EBN1, EBN2, KCNQ2, KCNQ3
Benign familial neonatal convulsions caused by altered gating of KCNQ2/KCNQ3 potassium channels.
Castaldo P, del Giudice EM, Coppola G, Pascotto A, Annunziato L, Taglialatela M.
J Neurosci 22(2):RC199. 2002
16EBN1, KCNQ2
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.
Dedek K, Kunath B, Kananura C, Reuner U, Jentsch TJ, Steinlein OK.
Proc Natl Acad Sci U S A 98(21):12272-7. 2001
17EBN1, KCNQ2
A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family.
Lee WL, Biervert C, Hallmann K, Tay A, Dean JC, Steinlein OK.
Neuropediatrics 31(1):9-12. 2000
18EBN1, KCNQ2
Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.
Miraglia del Giudice E, Coppola G, Scuccimarra G, Cirillo G, Bellini G, Pascotto A.
Eur J Hum Genet 8(12):994-7. 2000
19EBN1, KCNQ2
A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions.
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.
Ann Neurol 46(3):305-12. 1999
20EBN1, KCNQ2
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
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.
Nat Genet 18(1):25-9. 1998
21EBN1, KCNQ2
A potassium channel mutation in neonatal human epilepsy.
Biervert C, et al.
Science 279 : 403-406. 1998
22EBN1, EBN2, KCNQ2, KCNQ3
Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy.
Yang WP, Levesque PC, Little WA, Conder ML, Ramakrishnan P, Neubauer MG, Blanar MA.
J Biol Chem 273 : 19419-19423. 1998
23EBN1, EBN2, KCNQ2, KCNQ3
Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.
Schroeder BC, et al.
Nature 396 : 687-690. 1998
24EBN1, ECA1
Common subtypes of idiopathic generalized epilepsies : lack of linkage to D20S19 close to candidate loci (EBN1, EEGV1) on chromosome 20.
Sander T, et al.
Am J Med Genet 67 : 31-39. 1996
25EBN1, EBN2
Evidence of a third locus for benign familial convulsions.
Lewis TB, et al.
J Child Neurol 11 : 211-214. 1996
26EBN1
Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions gene.
Malafosse A, et al.
Ann Neurol 35 : 479-482. 1994
27CHRNA4, EBN1
Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor alpha4 subunit (CHRNA4) to human chromosome 20q13.2-q13.3.
Steinlein O, et al.
Genomics 22 : 493-495. 1994
28EBN1
Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20.
Berkovic SF, et al.
Arch Neurol 51 : 1125-1128. 1994
29EBN1
Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20.
Malafosse A, et al.
Hum Genet 89 : 54-58. 1992
30EBN1
Benign familial neonatal convulsions in a newfoundland kindred linked to chromosome 20.
Rosales TO, et al.
Am J Hum Genet 49S : 159. 1991
31EBN1
Benign familial neonatal convulsions linked to genetic markers on chromosome 20.
Leppert M, Anderson VE, Quattlebaum T, Stauffer D, O'Connell P, Nakamura Y, Lalouel JM, White R.
Nature 337 : 647-648. 1989