Gourfinkel-An I - Search Results

1

A novel locus for generalized epilepsy with febrile seizures plus in French families.

Baulac S, Gourfinkel-An I, Couarch P, Depienne C, Kaminska A, Dulac O, Baulac M, LeGuern E, Nabbout R. Baulac S, et al. Arch Neurol. 2008 Jul;65(7):943-51. doi: 10.1001/archneur.65.7.943. Arch Neurol. 2008. PMID: 18625863

2

A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

Baulac S, Gourfinkel-An I, Picard F, Rosenberg-Bourgin M, Prud'homme JF, Baulac M, Brice A, LeGuern E. Baulac S, et al. Am J Hum Genet. 1999 Oct;65(4):1078-85. doi: 10.1086/302593. Am J Hum Genet. 1999. PMID: 10486327 Free PMC article.

3

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene.

Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme JF, Baulac M, Brice A, Bruzzone R, LeGuern E. Baulac S, et al. Nat Genet. 2001 May;28(1):46-8. doi: 10.1038/ng0501-46. Nat Genet. 2001. PMID: 11326274

4

Monogenic idiopathic epilepsies.

Gourfinkel-An I, Baulac S, Nabbout R, Ruberg M, Baulac M, Brice A, LeGuern E. Gourfinkel-An I, et al. Lancet Neurol. 2004 Apr;3(4):209-18. doi: 10.1016/S1474-4422(04)00706-9. Lancet Neurol. 2004. PMID: 15039033 Review.

5

Fever, genes, and epilepsy.

Baulac S, Gourfinkel-An I, Nabbout R, Huberfeld G, Serratosa J, Leguern E, Baulac M. Baulac S, et al. Lancet Neurol. 2004 Jul;3(7):421-30. doi: 10.1016/S1474-4422(04)00808-7. Lancet Neurol. 2004. PMID: 15207799 Review.

6

[Recent insights into the implication of ion channels in familial forms of epilepsies associated or non associated to febrile convulsions].

Gourfinkel-An I, Baulac S, Nabbout R, Brice A, Baulac M, Leguern E. Gourfinkel-An I, et al. Rev Neurol (Paris). 2004 May;160(5 Pt 2):S90-7. doi: 10.1016/s0035-3787(04)71011-5. Rev Neurol (Paris). 2004. PMID: 15269666 Review. French.

7

Myoclonic seizures in the context of generalized epilepsy with febrile seizures plus (GEFS+).

Baulac M, Gourfinkel-An I, Baulac S, Leguern E. Baulac M, et al. Adv Neurol. 2005;95:119-25. Adv Neurol. 2005. PMID: 15508917 Review. No abstract available.

8

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.

Depienne C, Arzimanoglou A, Trouillard O, Fedirko E, Baulac S, Saint-Martin C, Ruberg M, Dravet C, Nabbout R, Baulac M, Gourfinkel-An I, LeGuern E. Depienne C, et al. Hum Mutat. 2006 Apr;27(4):389. doi: 10.1002/humu.9419. Hum Mutat. 2006. PMID: 16541393

9

Two novel epilepsy-linked mutations leading to a loss of function of LGI1.

Chabrol E, Popescu C, Gourfinkel-An I, Trouillard O, Depienne C, Senechal K, Baulac M, LeGuern E, Baulac S. Chabrol E, et al. Arch Neurol. 2007 Feb;64(2):217-22. doi: 10.1001/archneur.64.2.217. Arch Neurol. 2007. PMID: 17296837

10

Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients.

Ribaï P, Nguyen K, Hahn-Barma V, Gourfinkel-An I, Vidailhet M, Legout A, Dodé C, Brice A, Dürr A. Ribaï P, et al. Arch Neurol. 2007 Jun;64(6):813-9. doi: 10.1001/archneur.64.6.813. Arch Neurol. 2007. PMID: 17562929

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