Berkovic SF - Search Results

1

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.

Carvill GL, Engel KL, Ramamurthy A, Cochran JN, Roovers J, Stamberger H, Lim N, Schneider AL, Hollingsworth G, Holder DH, Regan BM, Lawlor J, Lagae L, Ceulemans B, Bebin EM, Nguyen J; EuroEPINOMICS Rare Epilepsy Syndrome, Myoclonic-Astatic Epilepsy, and Dravet Working Group; Barsh GS, Weckhuysen S, Meisler M, Berkovic SF, De Jonghe P, Scheffer IE, Myers RM, Cooper GM, Mefford HC. Carvill GL, et al. Among authors: berkovic sf. Am J Hum Genet. 2018 Dec 6;103(6):1022-1029. doi: 10.1016/j.ajhg.2018.10.023. Am J Hum Genet. 2018. PMID: 30526861 Free PMC 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

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.

7

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

8

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.

9

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

10

Febrile seizures: genetics and relationship to other epilepsy syndromes.

Berkovic SF, Scheffer IE. Berkovic SF, et al. Curr Opin Neurol. 1998 Apr;11(2):129-34. doi: 10.1097/00019052-199804000-00009. Curr Opin Neurol. 1998. PMID: 9551293 Review.

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