Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures (original) (raw)
Hauser, W.A., Annegers, J.F. & Kurland, L.T. Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935–1984. Epilepsia34, 453–468 (1993). ArticleCASPubMed Google Scholar
Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia30, 389–399 (1989).
Steinlein, O.K. et al. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Genet.11, 201–203 (1995). ArticleCASPubMed Google Scholar
Biervert, C. et al. A potassium channel mutation in neonatal human epilepsy. Science279, 403–406 (1998). ArticleCASPubMed Google Scholar
Charlier, C. et al. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nature Genet.18, 53–55 (1998). ArticleCASPubMed Google Scholar
Singh, N.A. et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nature Genet.18, 25–29 (1998). ArticleCASPubMed Google Scholar
Wallace, R.H. et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel β1 subunit gene SCN1B. Nature Genet.19, 366–370 (1998). ArticleCASPubMed Google Scholar
Escayg, A. et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nature Genet.24, 343–345 (2000). ArticleCASPubMed Google Scholar
De Fusco, M. et al. The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy. Nature Genet.26, 275–276 (2000). ArticleCASPubMed Google Scholar
Scheffer, I.E. & Berkovic, S.F. Genetics of the epilepsies. Curr. Opin. Pediatr.12, 536–542 (2000). ArticleCASPubMed Google Scholar
Snead, O.C., Depaulis, A., Vergnes, M. & Marescaux, C. Absence epilepsy: advances in experimental animal models. Adv. Neurol.79, 253–278 (1999). PubMed Google Scholar
Sander, T. et al. Exclusion of linkage between idiopathic generalized epilepsies and the GABAA receptor α 1 and γ 2 subunit gene cluster on chromosome 5. Epilepsy Res.23, 235–244 (1996). ArticleCASPubMed Google Scholar
Sander, T. et al. Linkage analysis between idiopathic generalized epilepsies and the GABA(A) receptor α5 and β3 and γ3 subunit gene cluster on chromosome 15. Acta Neurol. Scand.96, 1–7 (1997). ArticleCASPubMed Google Scholar
Sander, T. et al. Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy. Am. J. Med. Genet.88, 305–310 (1999). ArticleCASPubMed Google Scholar
Fong, G.C. et al. Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3–4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24. Am. J. Hum. Genet.63, 1117–1129 (1998). ArticleCASPubMedPubMed Central Google Scholar
Feucht, M. et al. Possible association between childhood absence epilepsy and the gene encoding GABRB3. Biol. Psychiatry46, 997–1002 (1999). ArticleCASPubMed Google Scholar
Italian League Against Epilepsy Genetic Collaborative Group. Concordance of clinical forms of epilepsy in families with several affected members. Epilepsia34, 819–826 (1993).
Kucken, A.M., Wagner, D.A., Ward, P.R., Boileau, J.A. & Czajkowski, C. Identification of benzodiazepine binding site residues in the γ2 subunit of the γ-aminobutyric acid(A) receptor. Mol. Pharmacol.57, 932–939 (2000). CASPubMed Google Scholar
Draguhn, A., Verdorn, T.A., Ewert, M., Seeburg, P.H. & Sakmann, B. Functional and molecular distinction between recombinant rat GABAA receptor subtypes by Zn2+. Neuron5, 781–788 (1990). ArticleCASPubMed Google Scholar
Steriade, M., McCormick, D.A. & Sejnowski, T.J. Thalamocortical oscillations in the sleeping and aroused brain. Science262, 679–685 (1993). ArticleCASPubMed Google Scholar
Brooks-Kayal, A.R. & Pritchett, D.B. Developmental changes in human γ-aminobutyric acid A receptor subunit composition. Ann. Neurol.34, 687–693 (1993). ArticleCASPubMed Google Scholar
Scheffer, I.E. & Berkovic, S.F. Generalized epilepsy with febrile seizures plus—a genetic disorder with heterogeneous clinical phenotypes. Brain120, 479–490 (1997). ArticlePubMed Google Scholar
Lathrop, G.M. & Lalouel, J.M. Easy calculations of lod scores and genetic risks on small computers. Am. J. Hum. Genet.36, 460–465 (1984). CASPubMedPubMed Central Google Scholar
Cottingham, R.W., Idury, R.M. & Schaffer, A.A. Faster sequential genetic linkage computations. Am. J. Hum. Genet.53, 252–263 (1993). PubMedPubMed Central Google Scholar
Schaffer, A.A., Gupta, S.K., Shriram, K. & Cottingham, R.W. Avoiding recomputation in linkage analysis. Hum. Hered.44, 225–237 (1994). ArticleCASPubMed Google Scholar