Phillips HA - Search Results

1

A de novo mutation in sporadic nocturnal frontal lobe epilepsy.

Phillips HA, Marini C, Scheffer IE, Sutherland GR, Mulley JC, Berkovic SF. Phillips HA, et al. Ann Neurol. 2000 Aug;48(2):264-7. Ann Neurol. 2000. PMID: 10939581

2

Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability.

Derry CP, Heron SE, Phillips F, Howell S, MacMahon J, Phillips HA, Duncan JS, Mulley JC, Berkovic SF, Scheffer IE. Derry CP, et al. Among authors: phillips ha. Epilepsia. 2008 Dec;49(12):2125-9. doi: 10.1111/j.1528-1167.2008.01652.x. Epub 2008 May 9. Epilepsia. 2008. PMID: 18479385 Free article.

3

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

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: phillips ha. Nat Genet. 1998 Aug;19(4):366-70. doi: 10.1038/1252. Nat Genet. 1998. PMID: 9697698

5

Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.

Phillips HA, Scheffer IE, Crossland KM, Bhatia KP, Fish DR, Marsden CD, Howell SJ, Stephenson JB, Tolmie J, Plazzi G, Eeg-Olofsson O, Singh R, Lopes-Cendes I, Andermann E, Andermann F, Berkovic SF, Mulley JC. Phillips HA, et al. Am J Hum Genet. 1998 Oct;63(4):1108-16. doi: 10.1086/302047. Am J Hum Genet. 1998. PMID: 9758605 Free PMC article.

6

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: phillips ha. Ann Neurol. 1998 Dec;44(6):890-9. doi: 10.1002/ana.410440607. Ann Neurol. 1998. PMID: 9851433

7

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. 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.

8

LGI1 mutations in temporal lobe epilepsies.

Berkovic SF, Izzillo P, McMahon JM, Harkin LA, McIntosh AM, Phillips HA, Briellmann RS, Wallace RH, Mazarib A, Neufeld MY, Korczyn AD, Scheffer IE, Mulley JC. Berkovic SF, et al. Among authors: phillips ha. Neurology. 2004 Apr 13;62(7):1115-9. doi: 10.1212/01.wnl.0000118213.94650.81. Neurology. 2004. PMID: 15079010

9

Sodium-channel defects in benign familial neonatal-infantile seizures.

Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, Bleasel A, Shevell M, Mercho S, Seni MH, Guiot MC, Mulley JC, Berkovic SF, Scheffer IE. Heron SE, et al. Among authors: phillips ha. Lancet. 2002 Sep 14;360(9336):851-2. doi: 10.1016/S0140-6736(02)09968-3. Lancet. 2002. PMID: 12243921

10

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: phillips ha. Epilepsia. 2003 Apr;44(4):613-7. doi: 10.1046/j.1528-1157.2003.20102.x. Epilepsia. 2003. PMID: 12681012 Free article.

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