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. 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.



6. C. Amiet, I. Gourfinkel-An, A. Bouzamondo, S. Tordjman, M. Baulac, P. Lechat, L. Mottron, and D. Cohen. Epilepsy in Autism is Associated with Intellectual Disability and Gender: Evidence from a Meta-Analysis. Biol Psychiatry, 2008. Note: Journal article. [WWW]



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. E. Chabrol, I. Gourfinkel-An, I. E. Scheffer, F. Picard, P. Couarch, S. F. Berkovic, J. M. McMahon, N. Bajaj, L. Mota-Vieira, R. Mota, O. Trouillard, C. Depienne, M. Baulac, E. Leguern, and S. Baulac. Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy. Epilepsy Res, 76(1):41-8, 2007. Note: Journal ArticleNetherlands. [WWW]



9. E. Chabrol, C. Popescu, I. Gourfinkel-An, O. Trouillard, C. Depienne, K. Senechal, M. Baulac, E. LeGuern, and S. Baulac. Two novel epilepsy-linked mutations leading to a loss of function of LGI1. Arch Neurol, 64(2):217-222, 2007. [WWW]



10. I. Gourfinkel-An, C. Duyckaerts, A. Camuzat, C. Meyrignac, P. Sonderegger, M. Baulac, and A. Brice. Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene. Neurology, 69(1):79-83, 2007. Note: Case ReportsJournal ArticleUnited States. [WWW] Keyword(s): Adult, *Amino Acid Substitution, Dementia/epidemiology/*genetics, Exons/genetics, Female, France/ethnology, Frontal Lobe/pathology/*physiopathology, Genotype, Humans, Inclusion Bodies, Male, *Mutation, Missense, Myoclonic Epilepsies, Progressive/epidemiology/*genetics, Neuropeptides/*genetics, Pedigree, Phenotype, *Point Mutation, Serpins/*genetics, Switzerland.



11. P. Ribai, K. Nguyen, V. Hahn-Barma, I. Gourfinkel-An, M. Vidailhet, A. Legout, C. Dode, A. Brice, and A. Durr. Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. Arch Neurol, 64(6):813-9, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Atrophy, Brain/pathology, Child, Cognition Disorders/*etiology, Fathers, Female, Humans, Huntington Disease/*diagnosis/genetics/*psychology, Male, Mental Disorders/*etiology/psychology, Mothers, Movement Disorders/etiology, Retrospective Studies, Time Factors, Trinucleotide Repeats.



12. P. Cherin, F. Sedel, C. Mignot, M. Schupbach, I. Gourfinkel-An, M. Verny, and N. Baumann. [Neurological manifestations of type 1 Gaucher's disease: Is a revision of disease classification needed?]. Rev Neurol (Paris), 162(11):1076-83, 2006. Note: English AbstractJournal ArticleFrance. [WWW] Keyword(s): Adult, Age of Onset, Aged, Female, Gaucher Disease/*classification/*physiopathology, Glucosylceramidase/metabolism, Humans, Male, Middle Aged, Nervous System/*physiopathology, Parkinsonian Disorders/classification/complications, Phenotype, Reflex, Abnormal, Tremor/complications.



13. 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]



14. 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]



15. M. Baulac, I. Gourfinkel-An, S. Baulac, and E. Leguern. Myoclonic seizures in the context of generalized epilepsy with febrile seizures plus (GEFS+). Adv Neurol, 95:119-25, 2005. Note: Journal ArticleReviewUnited States. [WWW] Keyword(s): Epilepsies, Myoclonic/*complications/genetics, Epilepsy, Generalized/*complications/genetics, Family Health, Genotype, Humans, Nerve Tissue Proteins/genetics, Phenotype, Receptors, GABA-B/genetics, Seizures, Febrile/*complications/genetics, Sodium Channels/genetics.



16. 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.



17. 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.



18. 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.



19. I. Gourfinkel-An, K. Parain, A. Hartmann, L. Mangiarini, A. Brice, G. Bates, and E. C. Hirsch. Changes in GAD67 mRNA expression evidenced by in situ hybridization in the brain of R6/2 transgenic mice. J Neurochem, 86(6):1369-78, 2003. Note: Journal ArticleEngland. [WWW] Keyword(s): Animals, Brain/*metabolism/parasitology, Disease Models, Animal, Disease Progression, Glutamate Decarboxylase/*genetics, Humans, Huntington Disease/*metabolism/pathology, In Situ Hybridization, Isoenzymes/*genetics, Mice, Mice, Transgenic, RNA, Messenger/*metabolism, Trinucleotide Repeat Expansion.

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