Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2

Epilepsy Research

Volumn 54, Issue 1, 2003, Pages 21-27

  Dedek, Karin ^a,d   Fusco, Lucia ^b   Teloy, Nicole ^c   Steinlein, Ortrud K ^c  

^a UNIVERSITY OF HAMBURG   (Germany)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY HOSPITAL BONN   (Germany)

^d UNIVERSITY OF OLDENBURG   (Germany)

Author keywords

BFNC; Electrophysiology; Encephalopathy; Epilepsy; KCNQ2; Potassium channel

Indexed keywords

POTASSIUM CHANNEL; SERINE;

AMINO ACID SUBSTITUTION; ARTICLE; BENIGN CHILDHOOD EPILEPSY; BRAIN DISEASE; CASE REPORT; DISEASE ASSOCIATION; FAMILY HISTORY; GENE MUTATION; HUMAN; ITALY; MALE; MISSENSE MUTATION; NEWBORN; PRIORITY JOURNAL;

EID: 0038059165     PISSN: 09201211     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0920-1211(03)00037-8     Document Type: Article

References (13)

1. Biervert C., Schroeder B.C., Kubisch C., Berkovic S.F., Propping P., Jentsch T.J., Steinlein O.K. A potassium channel mutation in neonatal human epilepsy. Science. 279:1998;403-406.
2. Charlier C., Singh N.A., Ryan S.G., Lewis T.B., Reus B.E., Leach R.J., Leppert M. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat. Genet. 18:1998;53-55.
3. Cooper E.C., Aldape K.D., Abosch A., Barbaro N.M., Berger M.S., Peacock W.S., Jan Y.N., Jan L.Y. Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy. Proc. Natl. Acad. Sci. USA. 97:2000;4914-4919.
4. +-channel. Proc. Natl. Acad. Sci. USA. 98:2001;12272-12277.
5. Leppert M., Anderson V.E., Quattlebaum T., Stauffer D., O'Connell P., Nakamura Y., Lalouel J.M., White R. Benign neonatal convulsions linked to genetic markers on chromosome 20. Nature. 337:1989;647-648.
6. Lorenz C., Pusch M., Jentsch T.J. Heteromultimeric CLC chloride channels with novel properties. Proc. Natl. Acad. Sci. USA. 93:1996;13362-13366.
7. Ronen G.M., Rosales T.O., Connolly M., Anderson V.E., Leppert M. Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology. 43:1993;1355-1360.
8. Schwake M., Pusch M., Kharkovets T., Jentsch T.J. Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy. J. Biol. Chem. 275:2000;13343-13348.
9. Schroeder B.C., Kubisch C., Stein V., Jentsch T.J. Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. Nature. 396:1998;687-690.
10. Singh N.A., Charlier C., Stauffer D., DuPont B.R., Leach R.J., Melis R., Ronen G.M., Bjerre I., Quattlebaum T., Murphy J.V., McHarg M.L., Gagnon D., Rosales T.O., Peiffer A., Anderson V.E., Leppert M. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat. Genet. 18:1998;25-29.
11. Wakai S., Kamasaki H., Itoh N., Sueoka H., Kawamoto Y., Hayasaka H., Tsutsumi H., Chiba S. Classification of familial neonatal convulsions. Lancet. 344:1994;1376.
12. Wang H.S., Pan Z., Shi W., Brown B.S., Wymore R.S., Cohen I.S., Dixon J.E., McKinnon D. KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science. 282:1998;1890-1893.
13. Yang W.P., Levesque P.C., Little W.A., Conder M.L., Ramakrishnan P., Neubauer M.G., Blanar M.A. Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy. J. Biol. Chem. 273:1998;19419-19423.