Scheffer IE - Search Results

1

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype.

Sadleir LG, Mountier EI, Gill D, Davis S, Joshi C, DeVile C, Kurian MA; DDD Study; Mandelstam S, Wirrell E, Nickels KC, Murali HR, Carvill G, Myers CT, Mefford HC, Scheffer IE. Sadleir LG, et al. Among authors: scheffer ie. Neurology. 2017 Sep 5;89(10):1035-1042. doi: 10.1212/WNL.0000000000004331. Epub 2017 Aug 9. Neurology. 2017. PMID: 28794249 Free PMC 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

Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder.

Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann E, Andermann F, Desbiens R, Keene D, Cendes F, et al. Scheffer IE, et al. Brain. 1995 Feb;118 ( Pt 1):61-73. doi: 10.1093/brain/118.1.61. Brain. 1995. PMID: 7895015

4

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

5

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

6

Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome).

Scheffer IE, Wallace R, Mulley JC, Berkovic SF. Scheffer IE, et al. Brain Dev. 2001 Nov;23(7):732-5. doi: 10.1016/s0387-7604(01)00272-8. Brain Dev. 2001. PMID: 11701287 Review.

7

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

8

X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX.

Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G, Stromme P, Berkovic SF, Gecz J, Mulley JC. Scheffer IE, et al. Neurology. 2002 Aug 13;59(3):348-56. doi: 10.1212/wnl.59.3.348. Neurology. 2002. PMID: 12177367

9

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

10

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

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