1. C. Depienne, D. Bouteiller, B. Keren, E. Cheuret, K. Poirier, O. Trouillard, B. Benyahia, C. Quelin, W. Carpentier, S. Julia, A. Afenjar, A. Gautier, F. Rivier, S. Meyer, P. Berquin, M. Helias, I. Py, S. Rivera, N. Bahi-Buisson, I. Gourfinkel-An, C. Cazeneuve, M. Ruberg, A. Brice, R. Nabbout, and E. Leguern. Erratum. PLoS Genet, 5(4), 2009. Note: Journal ArticleUnited States. [WWW]



2. C. Depienne, D. Bouteiller, B. Keren, E. Cheuret, K. Poirier, O. Trouillard, B. Benyahia, C. Quelin, W. Carpentier, S. Julia, A. Afenjar, A. Gautier, F. Rivier, S. Meyer, P. Berquin, M. Helias, I. Py, S. Rivera, N. Bahi-Buisson, I. Gourfinkel-An, C. Cazeneuve, M. Ruberg, A. Brice, R. Nabbout, and E. Leguern. Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. PLoS Genet, 5(2):e1000381, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



3. 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.



4. 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.



5. R. Nabbout, C. Depienne, M. Chipaux, B. Girard, I. Souville, O. Trouillard, O. Dulac, J. Chelly, A. Afenjar, D. Heron, E. Leguern, C. Beldjord, T. Bienvenu, and N. Bahi-Buisson. CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. Epilepsy Res, 87(1):25-30, 2009. Note: Journal article. [WWW]



6. 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.



7. S. Baulac, I. Gourfinkel-An, P. Couarch, C. Depienne, A. Kaminska, O. Dulac, M. Baulac, E. LeGuern, and R. Nabbout. A novel locus for generalized epilepsy with febrile seizures plus in French families. Arch Neurol, 65(7):943-51, 2008. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Aged, Child, Epilepsy, Generalized/complications/*genetics, Female, France, Genetic Markers, Haplotypes/genetics, Humans, Linkage (Genetics)/genetics, Lod Score, Male, Middle Aged, Pedigree, Quantitative Trait Loci/*genetics, Seizures, Febrile/complications/*genetics.



8. R. Nabbout, I. Desguerre, S. Sabbagh, C. Depienne, P. Plouin, O. Dulac, and C. Chiron. An unexpected EEG course in Dravet syndrome. Epilepsy Res, 81(1):90-5, 2008. Note: Journal ArticleNetherlands. [WWW] Keyword(s): Adolescent, Age of Onset, Anticonvulsants/therapeutic use, Child, Cognition/physiology, Developmental Disabilities/complications, *Electroencephalography, Electromyography, Epilepsy, Tonic-Clonic/diagnosis/genetics/*physiopathology, Female, Fever/complications, Humans, Male, Mutation, Myoclonic Epilepsy, Juvenile/diagnosis/genetics/*physiopathology, Nerve Tissue Proteins/genetics, Sodium Channels/genetics, Syndrome.



9. R. Nabbout, S. Baulac, I. Desguerre, N. Bahi-Buisson, C. Chiron, M. Ruberg, O. Dulac, and E. LeGuern. New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p. Neurology, 68(17):1374-81, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Child, Preschool, Chromosomes, Human, Pair 18/*genetics, Chromosomes, Human, Pair 3/*genetics, Electroencephalography, Epilepsy, Absence/*genetics, Epilepsy, Temporal Lobe/genetics, Epilepsy, Tonic-Clonic/genetics, *Epistasis, Genetic, Female, France, Genes, Genetic Markers, Genotype, Haplotypes, Hippocampus/pathology, Humans, Infant, Magnetic Resonance Imaging, Male, Pedigree, Penetrance, Phenotype, Sclerosis/pathology, Seizures, Febrile/*genetics.



10. 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]



11. C. Depienne, O. Trouillard, R. Nabbout, I. Gourfinkel-An, A. Arzimanoglou, O. Dulac, M. Baulac, and E. Leguern. Mutation analysis of the SCN1A gene in 92 patients with severe myoclonic epilepsy of infancy. Epilepsia, 47:90-90, 2006. Note: Suppl. 3. [WWW]



12. R. Nabbout, S. Baulac, N. Bahi-Buisson, C. Chiron, O. Dulac, and E. Leguern. A French family with febrile seizures and childhood absence epilepsy. Epilepsia, 47:369-370, 2006. Note: Suppl. 4. [WWW]



13. S. Baulac, I. Gourfinkel-An, R. Nabbout, G. Huberfeld, J. Serratosa, E. Leguern, and M. Baulac. Fever, genes, and epilepsy. Lancet Neurol, 3(7):421-30, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tReviewEngland. [WWW] Keyword(s): Epilepsy/*genetics, Fever/genetics, Humans, Linkage (Genetics)/genetics, Phenotype, Seizures, Febrile/*genetics.



14. I. Gourfinkel-An, S. Baulac, R. Nabbout, A. Brice, M. Baulac, and E. Leguern. [Recent insights into the implication of ion channels in familial forms of epilepsies associated or non associated to febrile convulsions]. Rev Neurol (Paris), 160(5 Pt 2):S90-7, 2004. Note: English AbstractJournal ArticleResearch Support, Non-U.S. Gov'tReviewFrance. [WWW] Keyword(s): Child, Chloride Channels/genetics, Epilepsy/*genetics/*physiopathology, Epilepsy, Generalized/genetics/physiopathology, Humans, Ion Channels/*physiology, Mutation/physiology, Myoclonic Epilepsy, Juvenile/genetics, Receptors, GABA-A/genetics, Seizures, Febrile/*genetics/*physiopathology.



15. I. Gourfinkel-An, S. Baulac, R. Nabbout, M. Ruberg, M. Baulac, A. Brice, and E. LeGuern. Monogenic idiopathic epilepsies. Lancet Neurol, 3(4):209-18, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tReviewEngland. [WWW] Keyword(s): Animals, Anticonvulsants/therapeutic use, Epilepsy/classification/complications/drug therapy/*genetics, Epilepsy, Benign Neonatal/genetics, Epilepsy, Generalized/genetics, Epilepsy, Temporal Lobe/genetics, Humans, Ion Channels/chemistry/drug effects/*genetics, *Mutation, Receptors, Neurotransmitter/chemistry/drug effects/*genetics, Seizures, Febrile/genetics.



16. R. Nabbout, A. Kozlovski, E. Gennaro, N. Bahi-Buisson, F. Zara, C. Chiron, A. Bianchi, A. Brice, E. Leguern, and O. Dulac. Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. Epilepsy Res, 56(2-3):127-33, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tNetherlands. [WWW] Keyword(s): Child, Preschool, DNA/genetics, Epilepsies, Myoclonic/*genetics, Epilepsy, Generalized/*genetics, Female, Humans, Male, Mutation, Nerve Tissue Proteins/genetics, Polymorphism, Single Nucleotide/genetics, Seizures, Febrile/*genetics, Sodium Channels/genetics, ras Guanine Nucleotide Exchange Factors/*genetics.

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