Scheffer IE - Search Results

1

Autism and developmental disability caused by KCNQ3 gain-of-function variants.

Sands TT, Miceli F, Lesca G, Beck AE, Sadleir LG, Arrington DK, Schönewolf-Greulich B, Moutton S, Lauritano A, Nappi P, Soldovieri MV, Scheffer IE, Mefford HC, Stong N, Heinzen EL, Goldstein DB, Perez AG, Kossoff EH, Stocco A, Sullivan JA, Shashi V, Gerard B, Francannet C, Bisgaard AM, Tümer Z, Willems M, Rivier F, Vitobello A, Thakkar K, Rajan DS, Barkovich AJ, Weckhuysen S, Cooper EC, Taglialatela M, Cilio MR. Sands TT, et al. Among authors: scheffer ie. Ann Neurol. 2019 Aug;86(2):181-192. doi: 10.1002/ana.25522. Epub 2019 Jun 26. Ann Neurol. 2019. PMID: 31177578 Free article.

2

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

3

Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2.

Scheffer IE, Phillips HA, O'Brien CE, Saling MM, Wrennall JA, Wallace RH, Mulley JC, Berkovic SF. Scheffer IE, et al. Ann Neurol. 1998 Dec;44(6):890-9. doi: 10.1002/ana.410440607. Ann Neurol. 1998. PMID: 9851433

4

Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome.

Singh R, Scheffer IE, Crossland K, Berkovic SF. Singh R, et al. Among authors: scheffer ie. Ann Neurol. 1999 Jan;45(1):75-81. doi: 10.1002/1531-8249(199901)45:1<75::aid-art13>3.0.co;2-w. Ann Neurol. 1999. PMID: 9894880

5

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

6

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.

Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE. Berkovic SF, et al. Among authors: scheffer ie. Ann Neurol. 2004 Apr;55(4):550-7. doi: 10.1002/ana.20029. Ann Neurol. 2004. PMID: 15048894

7

Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation.

Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA. Chang BS, et al. Neurology. 2004 May 25;62(10):1722-8. doi: 10.1212/01.wnl.0000125187.52952.e9. Neurology. 2004. PMID: 15159468 Review.

8

Electroclinical features of absence seizures in childhood absence epilepsy.

Sadleir LG, Farrell K, Smith S, Connolly MB, Scheffer IE. Sadleir LG, et al. Among authors: scheffer ie. Neurology. 2006 Aug 8;67(3):413-8. doi: 10.1212/01.wnl.0000228257.60184.82. Neurology. 2006. PMID: 16894100

9

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

10

Febrile seizures.

Sadleir LG, Scheffer IE. Sadleir LG, et al. Among authors: scheffer ie. BMJ. 2007 Feb 10;334(7588):307-11. doi: 10.1136/bmj.39087.691817.AE. BMJ. 2007. PMID: 17289734 Free PMC article. Review. No abstract available.

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