Scheffer IE - Search Results

1

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.

Brunklaus A, Pérez-Palma E, Ghanty I, Xinge J, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Kattan MW, Zuberi SM, Lal D. Brunklaus A, et al. Among authors: scheffer ie. Neurology. 2022 Mar 15;98(11):e1163-e1174. doi: 10.1212/WNL.0000000000200028. Epub 2022 Jan 24. Neurology. 2022. PMID: 35074891 Free PMC 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: 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

4

CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.

Phillips HA, Favre I, Kirkpatrick M, Zuberi SM, Goudie D, Heron SE, Scheffer IE, Sutherland GR, Berkovic SF, Bertrand D, Mulley JC. Phillips HA, et al. Among authors: scheffer ie. Am J Hum Genet. 2001 Jan;68(1):225-31. doi: 10.1086/316946. Epub 2000 Dec 5. Am J Hum Genet. 2001. PMID: 11104662 Free PMC article.

5

Genetics of the epilepsies.

Scheffer IE, Berkovic SF. Scheffer IE, et al. Curr Opin Pediatr. 2000 Dec;12(6):536-42. doi: 10.1097/00008480-200012000-00004. Curr Opin Pediatr. 2000. PMID: 11106271 Review.

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

Genetics of the epilepsies.

Berkovic SF, Scheffer IE. Berkovic SF, et al. Among authors: scheffer ie. Epilepsia. 2001;42 Suppl 5:16-23. doi: 10.1046/j.1528-1157.2001.0420s5016.x. Epilepsia. 2001. PMID: 11887962 Free article. Review.

8

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

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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