Scheffer IE - Search Results

1

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

Henden L, Freytag S, Afawi Z, Baldassari S, Berkovic SF, Bisulli F, Canafoglia L, Casari G, Crompton DE, Depienne C, Gecz J, Guerrini R, Helbig I, Hirsch E, Keren B, Klein KM, Labauge P, LeGuern E, Licchetta L, Mei D, Nava C, Pippucci T, Rudolf G, Scheffer IE, Striano P, Tinuper P, Zara F, Corbett M, Bahlo M. Henden L, et al. Among authors: scheffer ie. Hum Genet. 2016 Oct;135(10):1117-25. doi: 10.1007/s00439-016-1700-8. Epub 2016 Jul 1. Hum Genet. 2016. PMID: 27368338

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: scheffer ie. 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. 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: scheffer ie. 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. Among authors: scheffer ie. Arch Neurol. 1994 Nov;51(11):1125-8. doi: 10.1001/archneur.1994.00540230063014. Arch Neurol. 1994. PMID: 7980108

6

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: scheffer ie. Epilepsy Res. 1995 Nov;22(3):227-33. doi: 10.1016/0920-1211(95)00049-6. Epilepsy Res. 1995. PMID: 8991790

7

Epilepsies with single gene inheritance.

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

8

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. Hum Mol Genet. 1997 Apr;6(4):555-62. doi: 10.1093/hmg/6.4.555. Hum Mol Genet. 1997. PMID: 9097958

9

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

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

10

Genetics of human partial epilepsy.

Berkovic SF, Scheffer IE. Berkovic SF, et al. Among authors: scheffer ie. Curr Opin Neurol. 1997 Apr;10(2):110-4. doi: 10.1097/00019052-199704000-00007. Curr Opin Neurol. 1997. PMID: 9146992 Review.

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