The genetic basis of epilepsy: Mutant alleles of ligand- and voltage- gated ion channels

Neuroscientist

Volumn 5, Issue 5, 1999, Pages 295-301

  Steinlein, Ortrud K ^a  

^a UNIVERSITY OF BONN   (Germany)

Author keywords

Acetylcholine receptor; Epilepsy; Potassium channel; Sodium channel

Indexed keywords

CHOLINERGIC RECEPTOR; POTASSIUM CHANNEL; SODIUM CHANNEL;

ALLELE; AUTOSOMAL DOMINANT INHERITANCE; EPILEPTOGENESIS; FEBRILE CONVULSION; FRONTAL LOBE EPILEPSY; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; MOLECULAR CLONING; REVIEW;

EID: 0032885952     PISSN: 10738584     EISSN: None     Source Type: Journal    
DOI: 10.1177/107385849900500515     Document Type: Review

References (34)

1. Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. Epilepsia 1989;30:389-99.
2. Berkovic SF, Howell RA, Hay DA, Hopper JL. Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol 1998;43:435-15.
3. Rosanoff AJ, Handy LM, Rosanoff IA. Etiology of epilepsy with special reference to its occurrence in twins. Arch Neurol Psychiatry 1934;31:1165-93.
4. Conrad K. Erbanlage und Epilepsie: Untersuchungen an einer Serie von 253 Zwillingspaaren. Z Neurol Psychiatry 1935;153: 271-326.
5. Inouye E. Observations on forty twin index cases with chronic epilepsy and their co-twins. J Nerv Ment Dis 1960;130:401-16.
6. Marshall AG, Hutchinson EO, Honisett J. Heredity in common diseases: a retrospective survey of twins in a hospital population. Br Med J 1962;1:1-6.
7. Harvald B, Hauge M. Hereditary factors elucidated by twin studies. In: Neel JV, Shaw MW, Schull WJ, editors. Genetics and the epidemiology of chronic diseases. Washington (DC): Public Health Service, US Department of Health, Education, and Welfare; 1965. p. 1-96.
8. Corey LA, Berg K, Pellock JM, Solaas MH, Nance WE, DeLorenzo RJ. The occurrence of epilepsy and febrile seizures in Virginian and Norwegian twins. Neurology 1991;41:1433-6.
9. Zara F, Bianchi A, Avanzini G, Di Donato S, Castellotti B, Patel PI, et al. Mapping of genes predisposing to idiopathic generalized epilepsy. Hum Mol Genet 1995;4:1201-7.
10. Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995;11: 201-3.
11. Steinlein OK, Magnusson A, Stoodt J, Bertrand S, Weiland S, Berkovic SF, et al. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 1997;6:943-7.
12. Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, et al. A potassium channel mutation in neonatal human epilepsy. Science 1998;279:403-6.
13. Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998;18:25-9.
14. Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 1998;18:53-5.
15. Wallace RH, Wang DW, Singh R, Scheffer IE, George AL Jr, Phillips HA, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel betal subunit gene SCN1B. Nat Genet 1998;19:366-70.
16. Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann F, et al. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 1994;26:515-7.
17. Oldani A, Zucconi M, Ferini-Strambi L, Bizzozero D, Smirne S. Autosomal dominant nocturnal frontal lobe epilepsy: electroclinical picture. Epilepsia 1996;37:964-76.
18. Hayman M, Scheffer IE, Chinvarun Y, Berlangieri SU, Berkovic SF. Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation. Neurology 1997;49:969-75.
19. Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2. Nat Genet 1995;10:117-8.
20. Steinlein O, Smigrodzki R, Lindstrom J, Anand R, Kohler M, Tocharoentanaphol C, et al. Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4) to human chromosome 20q13.2-13.3. Genomics 1994; 22:493-5.
21. Whiting P, Schoepfer R, Lindstrom J, Priestly T. Structural and pharmacological characterization of the major brain nicotine acetylcholine receptor subtype stably expressed in mouse fibroblasts. Mol Pharmacol 1992;40:463-72.
22. Weiland S, Witzemann V, Villarroel A, Propping P, Steinlein O. An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics. FEBS Lett 1996;398:91-6.
23. Phillips HA, Scheffer IE, Crossland KM, Bhatia KP, Fish DR, Marsden CD, et al. Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet 1998;63:1101-9.
24. Ronen GM, Rosales TO, Connolly M, Anderson VE, Leppert M. Seizure characteristics in chromosome 20 benign familial neonatal convulsions. Neurology 1993;43:1355-60.
25. Wakai S, Kamasaki H, Itoh N, Sueoka H, Kawamoto Y, Hayasaka H, et al. Classification of familial neonatal convulsions [letter]. Lancet 1994;344:1376.
26. Berkovic SF, Kennerson ML, Howell RA, Scheffer IE, Hwang PA, Nicholson GA. Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20. Arch Neurol 1994; 51:1125-8.
27. Leppert M, Anderson VE, Quattlebaum T, Stauffer D, O'Connell P, Nakamura Y, et al. Benign neonatal convulsions linked to genetic markers on chromosome 20. Nature 1989;337:647-8.
28. Malafosse A, Leboyer M, Dulac O, Navelet Y, Plouin P, Beck C, et al. Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20. Hum Genet 1992;89:54-8.
29. Lewis TB, Leach RJ, Ward K, O'Connell P, Ryan SG. Genetic heterogeneity in benign familial neonatal convulsions: identification of a new locus on chromosome 8q. Am J Hum Genet 1993;53:670-5.
30. Steinlein O, Schuster V, Fischer C, Häussier M. Benign familial neonatal convulsions: confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q. Hum Genet 1995;95:411-5.
31. Yang WP, Levesque PC, Little WA, Conder ML, Ramakrishnan P, Neubauer MG, et al. Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy. J Biol Chem 1998;273:19419-23.
32. Wang HS, Pan Z, Shi W, Brown BS, Wymore RS, Cohen IS, et al. KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science 1998;282:1890-3.
33. Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479-90.
34. Biervert C, Steinlein OK. Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. Hum Genet 1999;104:234-40.