Genetic basis of the human epilepsies

Epilepsy Research

Volumn 36, Issue 2-3, 1999, Pages 91-95

  Gardiner, R Mark ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

Author keywords

Acetylcholine receptor; Epilepsy; Genetics; Ion channels; Potassium channels; Sodium channels

Indexed keywords

CHOLINERGIC RECEPTOR; ION CHANNEL; POTASSIUM CHANNEL; SODIUM CHANNEL;

ARTICLE; EPILEPSY; GENE MUTATION; HEREDITY; HUMAN; INHERITANCE; MOLECULAR DYNAMICS; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

EID: 0032885398     PISSN: 09201211     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0920-1211(99)00043-1     Document Type: Article

References (20)

1. Biervert C., Schroeder B.C., Kubish 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. Brunelli S. Germline mutations in the homobox gene EMX2 in patients with severe schizencephaly. Nat. Genet. 12:1996;94-96.
3. Charlier C., Singh N., Ryan S., Lewis T., Reus B., Leach R., Leppert M. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat. Genet. 18:1998;53-55.
4. Des Portes V., Pinard J.M., Billuart P., Vinet M.C., Koulakoff A., Carrie A., Gelot A. et al. A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell. 92:1998;51-61.
5. Elmslie F.V., Rees M., Williamson M.P., Kerr M., Juel Kjeldsen M., Pang K.-A., Sundqvist A. et al. Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q. Hum. Mol. Genet. 6(8):1997;1329-1334.
6. Fox J.W., Lamperti E.D., Ekiolu Y.Z., Hong S.E., Feng Y., Graham D.A., Scheffer I.E. et al. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 21:1998;1315-1325.
7. Gleeson J.G., Allen K.M., Fox J.W., Lamperti E.D., Berkovic S., Scheffer I. Doublecortin, a brain-specific gene mutated in human X-linked Lessencephaly and Double Cortex Syndrome, encodes a putative signaling protein. Cell. 92:1998;63-72.
8. Hattori M., Adachi H., Tsujimoto M., Arai H., Inoue K. Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor. Nature. 370:1994;216-218.
9. Minassian B.A., Lee J.R., Herbrick J.-A., Huizenga J., Soder S., Mungall A.J., Dunham I. et al. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat. Genet. 20:1998;171-174.
10. Neubauer B.A., Fiedler B., Himmelein B., Kampfer F., Labker U., Schwabe G., Spanier I. et al. Centrotemporal spikes in families with rolandic epilepsy. Linkage to chromosome 15q14. Neurology. 51:1998;1-5.
11. Pennacchio L.A., Lehesjoki A.-E., Stone N.E., Wilour V.L., Virtaneva K., Miao J., D'Amato E. et al. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science. 271:1996;1731-1734.
12. Savukoski M., Klockars T., Holmberg V., Santavuori P., Lander E.S., Peltonen L. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat. Genet. 19:1998;286-288.
13. Scheffer I.E., Berkovic S.F. Generalised epilepsy with febrile seizures plus - a genetic disorder with heterogeneous clinical phenotypes. Brain. 120:1997;479-490.
14. Singh N.A., Charlier C., Stauffer D., Dupont B.R., Leach R.J., Melis R., Ronen G.M. et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat. Genet. 18:1998;25-29.
15. Sleat D.E., Donnelly R.J., Lackland H., Liu C.-G., Sohar I., Pullarkat R.K., Lobel P. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science. 277:1997;1802-1805.
16. Steinlein O.K., Mulley J.C., Propping P., Wallace R.H., Phillips H.A., Sutherland G.R., Scheffer I.E., Berkovic S.F. A missense mutation in the neuronal nicotinic receptor α 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat. Genet. 11:1995;201-203.
17. Steinlein O.K., Magnusson A., Stoodt J., Bertrand S., Weiland S., Berkovic S., Nakken K.O., Propping P., Bertrand D. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum. Mol. Genet. 6(6):1997;943-947.
18. The International Batten Disease Consortium, 1995. Isolation of a novel gene underlying Batten Disease, CLN3. Cell 82, 949-957.
19. Vesa J., Hellsten E., Verkruyse L.A., Camp L.A., Rapola J., Santavuori P., Hofmann S.L., Peltonen L. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature. 376:1995;584-587.
20. + channel beta 1 subunit gene SCN1B. Nat. Genet. 19:1998;366-370.