Depienne C - Search Results

1

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.

Brunklaus A, Pérez-Palma E, Ghanty I, Xinge J, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Kattan MW, Zuberi SM, Lal D. Brunklaus A, et al. Among authors: depienne c. Neurology. 2022 Mar 15;98(11):e1163-e1174. doi: 10.1212/WNL.0000000000200028. Epub 2022 Jan 24. Neurology. 2022. PMID: 35074891 Free PMC article.

2

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

3

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

4

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

5

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

6

Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.

Vahedi K, Depienne C, Le Fort D, Riant F, Chaine P, Trouillard O, Gaudric A, Morris MA, Leguern E, Tournier-Lasserve E, Bousser MG. Vahedi K, et al. Among authors: depienne c. Neurology. 2009 Mar 31;72(13):1178-83. doi: 10.1212/01.wnl.0000345393.53132.8c. Neurology. 2009. PMID: 19332696 Review.

7

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.

Nabbout R, Depienne C, Chipaux M, Girard B, Souville I, Trouillard O, Dulac O, Chelly J, Afenjar A, Héron D, Leguern E, Beldjord C, Bienvenu T, Bahi-Buisson N. Nabbout R, et al. Among authors: depienne c. Epilepsy Res. 2009 Nov;87(1):25-30. doi: 10.1016/j.eplepsyres.2009.07.004. Epub 2009 Sep 5. Epilepsy Res. 2009. PMID: 19734009

8

Unusual consequences of status epilepticus in Dravet syndrome.

Chipaux M, Villeneuve N, Sabouraud P, Desguerre I, Boddaert N, Depienne C, Chiron C, Dulac O, Nabbout R. Chipaux M, et al. Among authors: depienne c. Seizure. 2010 Apr;19(3):190-4. doi: 10.1016/j.seizure.2010.01.007. Epub 2010 Feb 20. Seizure. 2010. PMID: 20172746 Free article.

9

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. J Med Genet. 2010 Jun;47(6):404-10. doi: 10.1136/jmg.2009.074328. J Med Genet. 2010. PMID: 20522430 Free article.

10

De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.

Riant F, Ducros A, Ploton C, Barbance C, Depienne C, Tournier-Lasserve E. Riant F, et al. Among authors: depienne c. Neurology. 2010 Sep 14;75(11):967-72. doi: 10.1212/WNL.0b013e3181f25e8f. Neurology. 2010. PMID: 20837964

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