1 | EBN1, 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
|
2 | EBN1, 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
|
3 | EBN1, 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
|
4 | EBN2, KCNQ3
|
| A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.
|
| Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, Leppert M.
|
| Nat Genet 18(1):53-5. 1998
|
5 | EBN1, 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
|
6 | EBN1, 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
|
7 | EBN1, EBN2
|
| Evidence of a third locus for benign familial convulsions.
|
| Lewis TB, et al.
|
| J Child Neurol 11 : 211-214. 1996
|
8 | EBN2
|
| Benign familial neonatal convulsions : confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q.
|
| Steinlein O, et al.
|
| Hum Genet 95 : 411-415. 1995
|
9 | EBN2
|
| A radiation hybrid map of the EBN2 region on chromosome 8q. (abstr)
|
| Leach RJ, et al.
|
| Cytogenet Cell Genet 68 : 158. 1995
|
10 | EBN2, D8S315
|
| Genetic heterogeneity in begnin familial neonatal convulsions : identification of a new locus on chromosome 8q.
|
| Lewis TB, et al.
|
| Am J Hum Genet 53 : 670-675. 1993
|
11 | BOR1, EBN2
|
| Fine mapping and narrowing of the genetic interval of the region of branchio-oto-renal syndrome on chromosome 8q by linkage studies.
|
| Kumar S, et al.
|
| Cytogenet Cell Genet 64 : 143. 1993
|