Leguern E - 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: leguern e. 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: leguern e. 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: leguern e. Nat Genet. 2000 Apr;24(4):343-5. doi: 10.1038/74159. Nat Genet. 2000. PMID: 10742094 No abstract available.

4

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

Guilbot A, Williams A, Ravisé N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Mégarbané A, Claustres M. Guilbot A, et al. Among authors: leguern e. Hum Mol Genet. 2001 Feb 15;10(4):415-21. doi: 10.1093/hmg/10.4.415. Hum Mol Genet. 2001. PMID: 11157804

5

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: leguern e. Nat Genet. 2001 May;28(1):46-8. doi: 10.1038/ng0501-46. Nat Genet. 2001. PMID: 11326274

6

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: leguern e. Ann Neurol. 2001 Jun;49(6):786-92. doi: 10.1002/ana.1014. Ann Neurol. 2001. PMID: 11409431

7

A locus for simple pure febrile seizures maps to chromosome 6q22-q24.

Nabbout R, Prud'homme JF, Herman A, Feingold J, Brice A, Dulac O, LeGuern E. Nabbout R, et al. Among authors: leguern e. Brain. 2002 Dec;125(Pt 12):2668-80. doi: 10.1093/brain/awf281. Brain. 2002. PMID: 12429594

8

Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy.

Nabbout R, Kozlovski A, Gennaro E, Bahi-Buisson N, Zara F, Chiron C, Bianchi A, Brice A, Leguern E, Dulac O. Nabbout R, et al. Among authors: leguern e. Epilepsy Res. 2003 Oct;56(2-3):127-33. doi: 10.1016/j.eplepsyres.2003.08.007. Epilepsy Res. 2003. PMID: 14642997

9

Levetiracetam in progressive myoclonic epilepsy: an exploratory study in 9 patients.

Crest C, Dupont S, Leguern E, Adam C, Baulac M. Crest C, et al. Among authors: leguern e. Neurology. 2004 Feb 24;62(4):640-3. doi: 10.1212/01.wnl.0000110193.78872.dd. Neurology. 2004. PMID: 14981187

10

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: leguern e. Lancet Neurol. 2004 Apr;3(4):209-18. doi: 10.1016/S1474-4422(04)00706-9. Lancet Neurol. 2004. PMID: 15039033 Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

247 results

Search Page

Filters