Berkovic SF - Search Results

1

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families.

Hynes K, Tarpey P, Dibbens LM, Bayly MA, Berkovic SF, Smith R, Raisi ZA, Turner SJ, Brown NJ, Desai TD, Haan E, Turner G, Christodoulou J, Leonard H, Gill D, Stratton MR, Gecz J, Scheffer IE. Hynes K, et al. Among authors: berkovic sf. J Med Genet. 2010 Mar;47(3):211-6. doi: 10.1136/jmg.2009.068817. Epub 2009 Sep 14. J Med Genet. 2010. PMID: 19752159

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

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.

8

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

9

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.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

737 results

Search Page