Gourfinkel-An I - Search Results

1

Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.

Sedel F, Gourfinkel-An I, Lyon-Caen O, Baulac M, Saudubray JM, Navarro V. Sedel F, et al. J Inherit Metab Dis. 2007 Nov;30(6):846-54. doi: 10.1007/s10545-007-0723-7. Epub 2007 Oct 22. J Inherit Metab Dis. 2007. PMID: 17957491 Review.

2

Benefits of vagus nerve stimulation on psychomotor functions in patients with severe drug-resistant epilepsy.

Bordes A, El Bendary Y, Goudard G, Masson V, Gourfinkel-An I, Mathon B. Bordes A, et al. Among authors: gourfinkel an i. Epilepsy Res. 2023 Dec;198:107260. doi: 10.1016/j.eplepsyres.2023.107260. Epub 2023 Nov 24. Epilepsy Res. 2023. PMID: 38007914

3

A new neurodevelopmental disorder linked to heterozygous variants in UNC79.

Bayat A, Liu Z, Luo S, Fenger CD, Højte AF, Isidor B, Cogne B, Larson A, Zanus C, Faletra F, Keren B, Musante L, Gourfinkel-An I, Perrine C, Demily C, Lesca G, Liao W, Ren D. Bayat A, et al. Among authors: gourfinkel an i. Genet Med. 2023 Sep;25(9):100894. doi: 10.1016/j.gim.2023.100894. Epub 2023 May 11. Genet Med. 2023. PMID: 37183800 Free article.

4

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.

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

6

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.

7

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.

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. 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. 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. Hum Mutat. 2006 Apr;27(4):389. doi: 10.1002/humu.9419. Hum Mutat. 2006. PMID: 16541393

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

51 results

Search Page

Filters