Depienne C - Search Results

1

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.

Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, Keren B, Abert B, Gautier A, Baulac S, Arzimanoglou A, Cazeneuve C, Nabbout R, LeGuern E. Depienne C, et al. J Med Genet. 2009 Mar;46(3):183-91. doi: 10.1136/jmg.2008.062323. Epub 2008 Oct 17. J Med Genet. 2009. PMID: 18930999

2

Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements.

Naïmi M, Tardieu S, Depienne C, Ruberg M, Brice A, Dubourg O, Leguern E. Naïmi M, et al. Among authors: depienne c. Am J Med Genet A. 2005 Jul 15;136(2):136-9. doi: 10.1002/ajmg.a.30790. Am J Med Genet A. 2005. PMID: 15940694

3

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

4

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.

Depienne C, Fedirko E, Forlani S, Cazeneuve C, Ribaï P, Feki I, Tallaksen C, Nguyen K, Stankoff B, Ruberg M, Stevanin G, Durr A, Brice A. Depienne C, et al. J Med Genet. 2007 Apr;44(4):281-4. doi: 10.1136/jmg.2006.046425. Epub 2006 Nov 10. J Med Genet. 2007. PMID: 17098887 Free PMC article.

5

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: depienne c. Arch Neurol. 2007 Feb;64(2):217-22. doi: 10.1001/archneur.64.2.217. Arch Neurol. 2007. PMID: 17296837

6

Autism, language delay and mental retardation in a patient with 7q11 duplication.

Depienne C, Heron D, Betancur C, Benyahia B, Trouillard O, Bouteiller D, Verloes A, LeGuern E, Leboyer M, Brice A. Depienne C, et al. J Med Genet. 2007 Jul;44(7):452-8. doi: 10.1136/jmg.2006.047092. Epub 2007 Mar 30. J Med Genet. 2007. PMID: 17400790 Free PMC article.

7

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy.

Chabrol E, Gourfinkel-An I, Scheffer IE, Picard F, Couarch P, Berkovic SF, McMahon JM, Bajaj N, Mota-Vieira L, Mota R, Trouillard O, Depienne C, Baulac M, LeGuern E, Baulac S. Chabrol E, et al. Among authors: depienne c. Epilepsy Res. 2007 Aug;76(1):41-8. doi: 10.1016/j.eplepsyres.2007.06.014. Epub 2007 Aug 6. Epilepsy Res. 2007. PMID: 17681454

8

Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes.

Saint-Martin C, Bouteiller D, Stevanin G, Popescu C, Charon C, Ruberg M, Baulac S, LeGuern E, Labauge P, Depienne C. Saint-Martin C, et al. Among authors: depienne c. Neurogenetics. 2008 Feb;9(1):69-71. doi: 10.1007/s10048-007-0107-z. Epub 2007 Nov 9. Neurogenetics. 2008. PMID: 17992546 No abstract available.

9

An unexpected EEG course in Dravet syndrome.

Nabbout R, Desguerre I, Sabbagh S, Depienne C, Plouin P, Dulac O, Chiron C. Nabbout R, et al. Among authors: depienne c. Epilepsy Res. 2008 Sep;81(1):90-5. doi: 10.1016/j.eplepsyres.2008.04.015. Epub 2008 Jun 6. Epilepsy Res. 2008. PMID: 18539001

10

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. Among authors: depienne c. Arch Neurol. 2008 Jul;65(7):943-51. doi: 10.1001/archneur.65.7.943. Arch Neurol. 2008. PMID: 18625863

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