Gene defects in idiopathic epilepsy

Revue Neurologique

Volumn 155, Issue 6-7, 1999, Pages 450-453

  Steinlein, O K ^a,b  

^a UNIVERSITY HOSPITAL BONN   (Germany)

^b UNIVERSITY OF BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

NICOTINIC RECEPTOR; POTASSIUM CHANNEL;

ARTICLE; CHROMOSOME 20; CONVULSION; DISEASE CLASSIFICATION; EPILEPSY; FRONTAL LOBE EPILEPSY; GENE MUTATION; GENETIC DISORDER; HEREDITY; HUMAN; IDIOPATHIC DISEASE;

CHROMOSOMES, HUMAN, PAIR 20; EPILEPSY; EPILEPSY, FRONTAL LOBE; HUMANS; INFANT, NEWBORN; KCNQ2 POTASSIUM CHANNEL; MUTATION; POTASSIUM CHANNELS; POTASSIUM CHANNELS, VOLTAGE-GATED; RECEPTORS, NICOTINIC; SEIZURES;

EID: 0032780324     PISSN: 00353787     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

1. BIERVERT C., SCHROEDER B.C., KUBISCH C., BERKOVIC S.F., PROPPING P., JENTSCH T.J., STEINLEIN O.K. (1998). A potassium channel mutation in neonatal human epilepsy. Science 279: 403-406.
2. CHARLIER C., SINGH N.A., RYAN S.G., LEWIS T.B., REUS B.E., LEACH R.J., LEPPERT M. (1998). A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nature Genet 18: 53-55.
3. COGGAN J.S., PAYSAN J., CONROY W.G., BERG D.K. (1997). Direct recording of nicotinic responses in presynaptic nerve terminals. J Neurosci 17: 5798-5806.
4. Commission on classification and terminology of the International League Against Epilepsy (1989) Epilepsia 30: 389-399.
5. LEPPERT M., ANDERSON V.E., QUATTLEBAUM T., STAUFFER D., O'CONNELL P., NAKAMURA Y., LALOUEL J.M., WHITE R. (1989). Benign neonatal convulsions linked to genetic markers on chromosome 20. Nature 337: 647-648.
6. LEWIS T.B., LEACH R.J., WARD K., O'CONNELL P., RYAN S.G. (1993). Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. Am J Hum Genet 53: 670-675.
7. MALAFOSSE A., LEBOYER M., DULAC O., NAVELET Y., PLOUIN P., BECK C., LAKLOU H., MOUCHNINO G., GRANDSCENE P., VALLEE L. (1992). Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20. Hum Genet 89: 54-58.
8. PHILLIPS H.A., SCHEFFER I.E., BERKOVIC S.F., HOLLWAY G.E., SUTHERLAND G.R., MULLEY J.C. (1995). Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nature Genet 10: 117-118.
9. SCHEFFER I.E., BHATIA K.P., LOPES-CENDES I., FISH D.R., MARSDEN C.D., ANDERMANN F., ANDERMANN E., DESBIENS R., CENDES F., MANSON J.I. (1994). Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 26: 515-517.
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. (1998). A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nature Genet 18: 25-29.
11. STEINLEIN O., SMIGRODZKI R., LINDSTROM J., ANAND R., KÖHLER M., TOCHAROENTANAPHOL C., VOGEL F. (1994). Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor a4 subunit (CHRNA4) to human chromosome 20q13.2-13.3. Genomics 22: 493-495.
12. SIS O., MULLEY J.C., PROPPING P., WALLACE R.H., PHILLIPS H.A., SUTHERLAND G.R., SCHEFFER I.E., BERKOVIC S.F. (1995). A missense mutation in the neuronal nicotinic acetylcholine receptor a4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Genet 11: 201-203.
13. STEINLEIN O., SCHUSTER V., FISCHER C., HÄUSSLER M. (1995). Benign familial neonatal convulsions: confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q. Hum Genet 95: 411-415.
14. STEINLEIN O., WEILAND S., STOODT J., PROPPING P. (1996). Exonintron structure of the human neuronal nicotinic acetylcholine receptor a4 subunit (CHRNA4). GENOMICS 32: 289-294.
15. STEINLEIN O., MAGNUSSON A., STOODT J., BERTRAND S., WEILAND S., BERKOVIC S.F., NAKKEN K.O., PROPPING P., BERTRAND D. (1997). An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 6: 943-947.
16. WANG Q., CURRAN M.E., SPLAWSKI I., BURN T.C., MILLHOLLAND J.M., VANRAAY T.J., SHEN J., TIMOTHY K.W., VINCENT G.M., DE JAGER T., SCHWARTZ P.J., TOUBIN J.A., MOSS A.J., ATKINSON D.L., LANDES G.M., CONNORS T.D., KEATING M.T. (1996). Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nature Genet 12: 17-23.
17. WEILAND S., WITZEMANN V., VILLARROEL A., PROPPING P., STEINLEIN O. (1996). An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics. FEBS Letters 398: 91-96.
18. WONNACOTT S. Presynaptic nicotinic ACh receptors (1997). Trends Neurosci 20: 92-98.