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621 results
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A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF. Steinlein OK, et al. Among authors: berkovic sf. Nat Genet. 1995 Oct;11(2):201-3. doi: 10.1038/ng1095-201. Nat Genet. 1995. PMID: 7550350
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2.
Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC. Phillips HA, et al. Among authors: berkovic sf. Nat Genet. 1995 May;10(1):117-8. doi: 10.1038/ng0595-117. Nat Genet. 1995. PMID: 7647781
Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21.
Wallace RH, Berkovic SF, Howell RA, Sutherland GR, Mulley JC. Wallace RH, et al. Among authors: berkovic sf. J Med Genet. 1996 Apr;33(4):308-12. doi: 10.1136/jmg.33.4.308. J Med Genet. 1996. PMID: 8730286 Free PMC article.
Familial temporal lobe epilepsy: a common disorder identified in twins.
Berkovic SF, McIntosh A, Howell RA, Mitchell A, Sheffield LJ, Hopper JL. Berkovic SF, et al. Ann Neurol. 1996 Aug;40(2):227-35. doi: 10.1002/ana.410400214. Ann Neurol. 1996. PMID: 8773604
Genetic linkage studies in familial frontal epilepsy: exclusion of the human chromosome regions homologous to the El-1 mouse locus.
Lopes-Cendes I, Phillips HA, Scheffer IE, Mulley JC, Desbiens R, Andermann E, Cendes F, Verret S, Andermann F, Berkovic SF, et al. Lopes-Cendes I, et al. Among authors: berkovic sf. Epilepsy Res. 1995 Nov;22(3):227-33. doi: 10.1016/0920-1211(95)00049-6. Epilepsy Res. 1995. PMID: 8991790
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Motté J, Mira AP, Scheffer I, Berkovic S, Scaravilli F, King RA, Ledbetter DH, Schlessinger D, Dobyns WB, Walsh CA. Ross ME, et al. Among authors: berkovic s. Hum Mol Genet. 1997 Apr;6(4):555-62. doi: 10.1093/hmg/6.4.555. Hum Mol Genet. 1997. PMID: 9097958
Genetics of human partial epilepsy.
Berkovic SF, Scheffer IE. Berkovic SF, et al. Curr Opin Neurol. 1997 Apr;10(2):110-4. doi: 10.1097/00019052-199704000-00007. Curr Opin Neurol. 1997. PMID: 9146992 Review.
An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy.
Steinlein OK, Magnusson A, Stoodt J, Bertrand S, Weiland S, Berkovic SF, Nakken KO, Propping P, Bertrand D. Steinlein OK, et al. Among authors: berkovic sf. Hum Mol Genet. 1997 Jun;6(6):943-7. doi: 10.1093/hmg/6.6.943. Hum Mol Genet. 1997. PMID: 9175743
Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation.
Hayman M, Scheffer IE, Chinvarun Y, Berlangieri SU, Berkovic SF. Hayman M, et al. Among authors: berkovic sf. Neurology. 1997 Oct;49(4):969-75. doi: 10.1212/wnl.49.4.969. Neurology. 1997. PMID: 9339675
A potassium channel mutation in neonatal human epilepsy.
Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, Steinlein OK. Biervert C, et al. Among authors: berkovic sf. Science. 1998 Jan 16;279(5349):403-6. doi: 10.1126/science.279.5349.403. Science. 1998. PMID: 9430594
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