Baulac S - Search Results

1

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

Depienne C, Trouillard O, Bouteiller D, Gourfinkel-An I, Poirier K, Rivier F, Berquin P, Nabbout R, Chaigne D, Steschenko D, Gautier A, Hoffman-Zacharska D, Lannuzel A, Lackmy-Port-Lis M, Maurey H, Dusser A, Bru M, Gilbert-Dussardier B, Roubertie A, Kaminska A, Whalen S, Mignot C, Baulac S, Lesca G, Arzimanoglou A, LeGuern E. Depienne C, et al. Among authors: baulac s. Hum Mutat. 2011 Jan;32(1):E1959-75. doi: 10.1002/humu.21373. Hum Mutat. 2011. PMID: 21053371 Free PMC article.

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. Among authors: baulac m. 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. Among authors: baulac m. Nat Genet. 2001 May;28(1):46-8. doi: 10.1038/ng0501-46. Nat Genet. 2001. PMID: 11326274

4

Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31.

Baulac S, Picard F, Herman A, Feingold J, Genin E, Hirsch E, Prud'homme JF, Baulac M, Brice A, LeGuern E. Baulac S, et al. Among authors: baulac m. Ann Neurol. 2001 Jun;49(6):786-92. doi: 10.1002/ana.1014. Ann Neurol. 2001. PMID: 11409431

5

Monogenic idiopathic epilepsies.

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

6

Fever, genes, and epilepsy.

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

7

[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. Among authors: baulac m, baulac s. 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.

8

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. Among authors: baulac s. Adv Neurol. 2005;95:119-25. Adv Neurol. 2005. PMID: 15508917 Review. No abstract available.

9

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. Among authors: baulac m, baulac s. Hum Mutat. 2006 Apr;27(4):389. doi: 10.1002/humu.9419. Hum Mutat. 2006. PMID: 16541393

10

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. Among authors: baulac m, baulac s. Arch Neurol. 2007 Feb;64(2):217-22. doi: 10.1001/archneur.64.2.217. Arch Neurol. 2007. PMID: 17296837

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