1. C. Depienne, O. Trouillard, C. Saint-Martin, I. Gourfinkel-An, D. Bouteiller, W. Carpentier, B. Keren, B. Abert, A. Gautier, S. Baulac, A. Arzimanoglou, C. Cazeneuve, R. Nabbout, and E. LeGuern. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet, 46(3):183-91, 2009. Note: LetterResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Epilepsies, Myoclonic/*genetics, Female, Gene Deletion, Gene Rearrangement, Humans, Infant, Infant, Newborn, Male, *Mutation, Nerve Tissue Proteins/*genetics, Nucleic Acid Amplification Techniques, Sequence Analysis, DNA, Sodium Channels/*genetics.



2. C. Depienne, O. Trouillard, C. Saint-Martin, I. Gourfinkel-An, D. Bouteiller, W. Carpentier, B. Keren, B. Abert, A. Gautier, S. Baulac, A. Arzimanoglou, C. Cazeneuve, R. Nabbout, and E. LeGuern. Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet, 46(3):183-91, 2009. Note: LetterResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Epilepsies, Myoclonic/*genetics, Female, Gene Deletion, Gene Rearrangement, Humans, Infant, Infant, Newborn, Male, *Mutation, Nerve Tissue Proteins/*genetics, Nucleic Acid Amplification Techniques, Sequence Analysis, DNA, Sodium Channels/*genetics.



3. E. Magnin, M. Vidailhet, C. Depienne, C. Saint-Martin, D. Bouteiller, E. Leguern, E. Apartis, L. Rumbach, and P. Labauge. Familial cortical myoclonic tremor with epilepsy (FCMTE): Clinical characteristics and exclusion of linkages to 8q and 2p in a large French family. Rev Neurol (Paris), 165(10):812-820, 2009. Note: Journal article. [WWW]



4. C. Saint-Martin, G. Gauvain, G. Teodorescu, I. Gourfinkel-An, E. Fedirko, Y. G. Weber, S. Maljevic, J. P. Ernst, J. Garcia-Olivares, C. Fahlke, R. Nabbout, E. LeGuern, H. Lerche, J. C. Poncer, and C. Depienne. Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. Hum Mutat, 30(3):397-405, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Amino Acid Sequence, Cell Line, Chloride Channels/*genetics/physiology, DNA Mutational Analysis, Epilepsy, Generalized/*genetics/pathology/physiopathology, Family Health, Female, Humans, Male, Membrane Potentials/physiology, Middle Aged, Molecular Sequence Data, *Mutation, Missense, Patch-Clamp Techniques, Pedigree, Sequence Homology, Amino Acid, Transfection, Young Adult.



5. C. Saint-Martin, D. Bouteiller, G. Stevanin, C. Popescu, C. Charon, M. Ruberg, S. Baulac, E. Leguern, P. Labauge, and C. Depienne. Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes. Neurogenetics, 9(1):69-71, 2008. Note: Journal article. [WWW]



6. C. Depienne, A. Arzimanoglou, O. Trouillard, E. Fedirko, S. Baulac, C. Saint-Martin, M. Ruberg, C. Dravet, R. Nabbout, M. Baulac, I. Gourfinkel-An, and E. LeGuern. Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy. Hum Mutat, 27(4):389, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]

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