Baulac S - Search Results

1

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome.

Depienne C, Trouillard O, Gourfinkel-An I, Saint-Martin C, Bouteiller D, Graber D, Barthez-Carpentier MA, Gautier A, Villeneuve N, Dravet C, Livet MO, Rivier-Ringenbach C, Adam C, Dupont S, Baulac S, Héron D, Nabbout R, Leguern E. Depienne C, et al. Among authors: baulac s. J Med Genet. 2010 Jun;47(6):404-10. doi: 10.1136/jmg.2009.074328. J Med Genet. 2010. PMID: 20522430 Free 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

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.

Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A. Escayg A, et al. Among authors: baulac s. Nat Genet. 2000 Apr;24(4):343-5. doi: 10.1038/74159. Nat Genet. 2000. PMID: 10742094 No abstract available.

4

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

5

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

6

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.

7

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.

8

[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.

9

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.

10

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

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