Scheffer IE - Search Results

1

The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy.

Brunklaus A, Dorris L, Ellis R, Reavey E, Lee E, Forbes G, Appleton R, Cross JH, Ferrie C, Hughes I, Jollands A, King MD, Livingston J, Lynch B, Philip S, Scheffer IE, Williams R, Zuberi SM. Brunklaus A, et al. Among authors: scheffer ie. Dev Med Child Neurol. 2013 Feb;55(2):154-161. doi: 10.1111/dmcn.12030. Epub 2012 Nov 20. Dev Med Child Neurol. 2013. PMID: 23163885 Free article.

2

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

3

Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.

Wallace RH, Scheffer IE, Parasivam G, Barnett S, Wallace GB, Sutherland GR, Berkovic SF, Mulley JC. Wallace RH, et al. Among authors: scheffer ie. Neurology. 2002 May 14;58(9):1426-9. doi: 10.1212/wnl.58.9.1426. Neurology. 2002. PMID: 12011299

4

Channelopathies as a genetic cause of epilepsy.

Mulley JC, Scheffer IE, Petrou S, Berkovic SF. Mulley JC, et al. Among authors: scheffer ie. Curr Opin Neurol. 2003 Apr;16(2):171-6. doi: 10.1097/01.wco.0000063767.15877.c7. Curr Opin Neurol. 2003. PMID: 12644745 Review.

5

Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy.

McLellan A, Phillips HA, Rittey C, Kirkpatrick M, Mulley JC, Goudie D, Stephenson JB, Tolmie J, Scheffer IE, Berkovic SF, Zuberi SM. McLellan A, et al. Among authors: scheffer ie. Epilepsia. 2003 Apr;44(4):613-7. doi: 10.1046/j.1528-1157.2003.20102.x. Epilepsia. 2003. PMID: 12681012 Free article.

6

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

Wallace RH, Hodgson BL, Grinton BE, Gardiner RM, Robinson R, Rodriguez-Casero V, Sadleir L, Morgan J, Harkin LA, Dibbens LM, Yamamoto T, Andermann E, Mulley JC, Berkovic SF, Scheffer IE. Wallace RH, et al. Among authors: scheffer ie. Neurology. 2003 Sep 23;61(6):765-9. doi: 10.1212/01.wnl.0000086379.71183.78. Neurology. 2003. PMID: 14504318

7

SCN1A mutations and epilepsy.

Mulley JC, Scheffer IE, Petrou S, Dibbens LM, Berkovic SF, Harkin LA. Mulley JC, et al. Among authors: scheffer ie. Hum Mutat. 2005 Jun;25(6):535-42. doi: 10.1002/humu.20178. Hum Mutat. 2005. PMID: 15880351 Review.

8

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

Berkovic SF, Harkin L, McMahon JM, Pelekanos JT, Zuberi SM, Wirrell EC, Gill DS, Iona X, Mulley JC, Scheffer IE. Berkovic SF, et al. Among authors: scheffer ie. Lancet Neurol. 2006 Jun;5(6):488-92. doi: 10.1016/S1474-4422(06)70446-X. Lancet Neurol. 2006. PMID: 16713920

9

A new molecular mechanism for severe myoclonic epilepsy of infancy: exonic deletions in SCN1A.

Mulley JC, Nelson P, Guerrero S, Dibbens L, Iona X, McMahon JM, Harkin L, Schouten J, Yu S, Berkovic SF, Scheffer IE. Mulley JC, et al. Among authors: scheffer ie. Neurology. 2006 Sep 26;67(6):1094-5. doi: 10.1212/01.wnl.0000237322.04338.2b. Neurology. 2006. PMID: 17000989

10

Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults.

Jansen FE, Sadleir LG, Harkin LA, Vadlamudi L, McMahon JM, Mulley JC, Scheffer IE, Berkovic SF. Jansen FE, et al. Among authors: scheffer ie. Neurology. 2006 Dec 26;67(12):2224-6. doi: 10.1212/01.wnl.0000249312.73155.7d. Neurology. 2006. PMID: 17190949

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