Zuberi SM - Search Results

1

De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin.

Heron SE, Scheffer IE, Iona X, Zuberi SM, Birch R, McMahon JM, Bruce CM, Berkovic SF, Mulley JC. Heron SE, et al. Among authors: zuberi sm. J Med Genet. 2010 Feb;47(2):137-41. doi: 10.1136/jmg.2008.065912. Epub 2009 Jul 8. J Med Genet. 2010. PMID: 19589774

2

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: zuberi sm. 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.

3

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

4

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

Berkovic SF, Harkin L, McMahon JM, Pelekanos JT, Zuberi SM, Wirrell EC, Gill DS, Iona X, Mulley JC, Scheffer IE. Berkovic SF, et al. Among authors: zuberi sm. Lancet Neurol. 2006 Jun;5(6):488-92. doi: 10.1016/S1474-4422(06)70446-X. Lancet Neurol. 2006. PMID: 16713920

5

The spectrum of SCN1A-related infantile epileptic encephalopathies.

Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A; Infantile Epileptic Encephalopathy Referral Consortium; Sutherland G, Berkovic SF, Mulley JC, Scheffer IE. Harkin LA, et al. Among authors: zuberi sm. Brain. 2007 Mar;130(Pt 3):843-52. doi: 10.1093/brain/awm002. Brain. 2007. PMID: 17347258

6

Genetics of epilepsy: epilepsy research foundation workshop report.

Sisodiya S, Cross JH, Blümcke I, Chadwick D, Craig J, Crino PB, Debenham P, Delanty N, Elmslie F, Gardiner M, Golden J, Goldstein D, Greenberg DA, Guerrini R, Hanna M, Harris J, Harrison P, Johnson MR, Kirov G, Kullman DM, Makoff A, Marini C, Nabbout R, Nashef L, Noebels JL, Ottman R, Pirmohamed M, Pitkänen A, Scheffer I, Shorvon S, Sills G, Wood N, Zuberi S. Sisodiya S, et al. Epileptic Disord. 2007 Jun;9(2):194-236. doi: 10.1684/epd.2007.0107. Epileptic Disord. 2007. PMID: 17525034 Free article.

7

Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures.

Heron SE, Cox K, Grinton BE, Zuberi SM, Kivity S, Afawi Z, Straussberg R, Berkovic SF, Scheffer IE, Mulley JC. Heron SE, et al. Among authors: zuberi sm. J Med Genet. 2007 Dec;44(12):791-6. doi: 10.1136/jmg.2007.051938. Epub 2007 Aug 3. J Med Genet. 2007. PMID: 17675531 Free PMC article.

8

Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation.

Hindocha N, Nashef L, Elmslie F, Birch R, Zuberi S, Al-Chalabi A, Crotti L, Schwartz PJ, Makoff A. Hindocha N, et al. Epilepsia. 2008 Feb;49(2):360-5. doi: 10.1111/j.1528-1167.2007.01439_2.x. Epilepsia. 2008. PMID: 18251839 Free article. No abstract available.

9

A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.

Livingston JH, Cross JH, Mclellan A, Birch R, Zuberi SM. Livingston JH, et al. Among authors: zuberi sm. J Child Neurol. 2009 Apr;24(4):503-8. doi: 10.1177/0883073808324537. J Child Neurol. 2009. PMID: 19339291

10

Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation.

Nishri D, Blumkin L, Lev D, Leshinsky-Silver E, Abu-Rashid M, Birch R, Zuberi SM, Lerman-Sagie T. Nishri D, et al. Among authors: zuberi sm. Eur J Paediatr Neurol. 2010 Sep;14(5):456-9. doi: 10.1016/j.ejpn.2010.03.002. Epub 2010 Apr 13. Eur J Paediatr Neurol. 2010. PMID: 20392657

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