Berkovic SF - Search Results

1

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

Bassuk AG, Wallace RH, Buhr A, Buller AR, Afawi Z, Shimojo M, Miyata S, Chen S, Gonzalez-Alegre P, Griesbach HL, Wu S, Nashelsky M, Vladar EK, Antic D, Ferguson PJ, Cirak S, Voit T, Scott MP, Axelrod JD, Gurnett C, Daoud AS, Kivity S, Neufeld MY, Mazarib A, Straussberg R, Walid S, Korczyn AD, Slusarski DC, Berkovic SF, El-Shanti HI. Bassuk AG, et al. Among authors: berkovic sf. Am J Hum Genet. 2008 Nov;83(5):572-81. doi: 10.1016/j.ajhg.2008.10.003. Epub 2008 Oct 30. Am J Hum Genet. 2008. PMID: 18976727 Free PMC article.

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: berkovic sf. Nat Genet. 1995 Oct;11(2):201-3. doi: 10.1038/ng1095-201. Nat Genet. 1995. PMID: 7550350

3

Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21.

Wallace RH, Berkovic SF, Howell RA, Sutherland GR, Mulley JC. Wallace RH, et al. Among authors: berkovic sf. J Med Genet. 1996 Apr;33(4):308-12. doi: 10.1136/jmg.33.4.308. J Med Genet. 1996. PMID: 8730286 Free PMC article.

4

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

Wallace RH, Wang DW, Singh R, Scheffer IE, George AL Jr, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC. Wallace RH, et al. Among authors: berkovic sf. Nat Genet. 1998 Aug;19(4):366-70. doi: 10.1038/1252. Nat Genet. 1998. PMID: 9697698

5

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. Among authors: berkovic sf. Ann Neurol. 1998 Dec;44(6):890-9. doi: 10.1002/ana.410440607. Ann Neurol. 1998. PMID: 9851433

6

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).

Serratosa JM, Gómez-Garre P, Gallardo ME, Anta B, de Bernabé DB, Lindhout D, Augustijn PB, Tassinari CA, Malafosse RM, Topcu M, Grid D, Dravet C, Berkovic SF, de Córdoba SR. Serratosa JM, et al. Among authors: berkovic sf. Hum Mol Genet. 1999 Feb;8(2):345-52. doi: 10.1093/hmg/8.2.345. Hum Mol Genet. 1999. PMID: 9931343

7

Locus for febrile seizures.

Scheffer IE, Wallace RH, Mulley JC, Berkovic SF. Scheffer IE, et al. Among authors: berkovic sf. Ann Neurol. 2000 Jun;47(6):840-1. doi: 10.1002/1531-8249(200006)47:6<840::aid-ana28>3.0.co;2-v. Ann Neurol. 2000. PMID: 10852560 No abstract available.

8

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Sutherland GR, George AL Jr, Mulley JC, Berkovic SF. Wallace RH, et al. Among authors: berkovic sf. Am J Hum Genet. 2001 Apr;68(4):859-65. doi: 10.1086/319516. Epub 2001 Mar 13. Am J Hum Genet. 2001. PMID: 11254444 Free PMC article.

9

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. Among authors: berkovic sf. Brain Dev. 2001 Nov;23(7):732-5. doi: 10.1016/s0387-7604(01)00272-8. Brain Dev. 2001. PMID: 11701287 Review.

10

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F, Wallace RH, Richards MC, Williams DA, Mulley JC, Berkovic SF, Scheffer IE, Petrou S. Harkin LA, et al. Among authors: berkovic sf. Am J Hum Genet. 2002 Feb;70(2):530-6. doi: 10.1086/338710. Epub 2001 Dec 17. Am J Hum Genet. 2002. PMID: 11748509 Free PMC article.

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