Berkovic SF - Search Results

1

Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes.

Mulley JC, Scheffer IE, Desai T, Bayly MA, Grinton BE, Vears DF, Berkovic SF, Dibbens LM. Mulley JC, et al. Among authors: berkovic sf. Epilepsia. 2011 Oct;52(10):e139-42. doi: 10.1111/j.1528-1167.2011.03188.x. Epub 2011 Jul 21. Epilepsia. 2011. PMID: 21777232 Free article.

2

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

3

Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation.

Scheffer IE, Jones L, Pozzebon M, Howell RA, Saling MM, Berkovic SF. Scheffer IE, et al. Among authors: berkovic sf. Ann Neurol. 1995 Oct;38(4):633-42. doi: 10.1002/ana.410380412. Ann Neurol. 1995. PMID: 7574460

4

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

5

Phenotypic expression of benign familial neonatal convulsions linked to chromosome 20.

Berkovic SF, Kennerson ML, Howell RA, Scheffer IE, Hwang PA, Nicholson GA. Berkovic SF, et al. Arch Neurol. 1994 Nov;51(11):1125-8. doi: 10.1001/archneur.1994.00540230063014. Arch Neurol. 1994. PMID: 7980108

6

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.

7

The first gene for an idiopathic epilepsy: a fruitful collaboration of Australian clinical research and molecular genetics.

Berkovic SF, Mulley JC. Berkovic SF, et al. Aust N Z J Med. 1996 Apr;26(2):154-6. doi: 10.1111/j.1445-5994.1996.tb00877.x. Aust N Z J Med. 1996. PMID: 8744611 Review. No abstract available.

8

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

9

Epilepsies with single gene inheritance.

Berkovic SF, Scheffer IE. Berkovic SF, et al. Brain Dev. 1997 Jan;19(1):13-8. doi: 10.1016/s0387-7604(96)00060-5. Brain Dev. 1997. PMID: 9071484 Review.

10

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes.

Scheffer IE, Berkovic SF. Scheffer IE, et al. Among authors: berkovic sf. Brain. 1997 Mar;120 ( Pt 3):479-90. doi: 10.1093/brain/120.3.479. Brain. 1997. PMID: 9126059

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