1. S. Baulac and M. Baulac. Advances on the genetics of mendelian idiopathic epilepsies. Neurol Clin, 27(4):1041-61, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]



2. S. Baulac, E. Chabrol, V. Navarro, I. Cohen, G. Provenzano, R. Miles, M. Baulac, and E. Leguern. LGI1-NULL MICE: A NEW MODEL FOR EPILEPSY?. Epilepsia, 50:388-389, 2009. Note: ISI Document Delivery No.: 503PPTimes Cited: 0Cited Reference Count: 063rd Annual Meeting of the American-Epilepsy-SocietyDEC 04-08, 2009Boston, MAAmer Epilepsy SocSuppl. 11. [WWW]



3. S. Baulac, H. Lu, J. Strahle, T. Yang, M. S. Goldberg, J. Shen, M. G. Schlossmacher, C. A. Lemere, Q. Lu, and W. Xia. Increased DJ-1 expression under oxidative stress and in Alzheimer's disease brains. Mol Neurodegener, 4(1):12, 2009. Note: Journal ArticleEngland. [WWW]



4. B. O. Ben Cheikh, S. Baulac, F. Lahjouji, A. Bouhouche, P. Couarch, N. Khalili, W. Regragui, S. Lehericy, M. Ruberg, A. Benomar, S. Heath, T. Chkili, M. Yahyaoui, M. Jiddane, R. Ouazzani, and E. LeGuern. A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22. Neurogenetics, 10(1):35-42, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Chromosome Mapping, *Chromosomes, Human, Pair 6, Consanguinity, DNA Mutational Analysis, Family, Female, Genetic Predisposition to Disease, Humans, Lod Score, Magnetic Resonance Imaging, Male, Malformations of Cortical Development/*genetics/pathology/physiopathology, Middle Aged, Morocco, Polymorphism, Single Nucleotide, Young Adult.



5. 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.



6. 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.



7. J. de Bellescize, N. Boutry, E. Chabrol, N. Andre-Obadia, A. Arzimanoglou, E. Leguern, S. Baulac, A. Calender, P. Ryvlin, and G. Lesca. A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes. Epilepsy Res, 85(1):118-22, 2009. Note: Journal ArticleResearch Support, Non-U.S. Gov'tNetherlands. [WWW] Keyword(s): Adolescent, Adult, Aged, Animals, Asparagine/genetics, COS Cells, Cercopithecus aethiops, Epilepsy, Temporal Lobe/*complications/*genetics, *Family Health, Female, Humans, Male, Middle Aged, Migraine Disorders/*complications/*genetics, Proteins/*genetics, Sequence Deletion/*genetics, Transfection/methods.



8. 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.



9. B. Ouled Amar Ben Cheikh, S. Baulac, F. Lahjouji, A. Bouhouche, P. Couarch, N. Khalili, W. Regragui, S. Lehericy, M. Ruberg, A. Benomar, S. Heath, T. Chkili, M. Yahyaoui, M. Jiddane, R. Ouazzani, and E. Leguern. A locus for bilateral occipital polymicrogyria maps to chromosome 6q16-q22. Neurogenetics, 2008. Note: Journal article. [WWW]



10. 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]



11. 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]



12. 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]



13. E. Eugene, C. Depienne, S. Baulac, M. Baulac, J. M. Fritschy, E. Le Guern, R. Miles, and J. C. Poncer. GABA(A) receptor gamma 2 subunit mutations linked to human epileptic syndromes differentially affect phasic and tonic inhibition. J Neurosci, 27(51):14108-16, 2007. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited Statesthe official journal of the Society for Neuroscience. [WWW] Keyword(s): Animals, Cells, Cultured, Epilepsy/*genetics/*metabolism/physiopathology, Hippocampus/*metabolism/physiology, Humans, *Mutation, Neural Inhibition/*genetics, Protein Subunits/antagonists & inhibitors/*genetics/physiology, Rats, Rats, Sprague-Dawley, Receptors, GABA-A/antagonists & inhibitors/*genetics/physiology, Signal Transduction/genetics, Synaptic Transmission/*genetics, Syndrome.



14. 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.



15. W. A. Campbell, H. Yang, H. Zetterberg, S. Baulac, J. A. Sears, T. Liu, S. T. Wong, T. P. Zhong, and W. Xia. Zebrafish lacking Alzheimer presenilin enhancer 2 (Pen-2) demonstrate excessive p53-dependent apoptosis and neuronal loss. J Neurochem, 96(5):1423-40, 2006. Note: AG015379/AG/United States NIAComparative StudyJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Alzheimer Disease, Animals, Animals, Genetically Modified, Apoptosis/*genetics, Blotting, Northern, Blotting, Western/methods, Body Patterning/drug effects/genetics, Cell Count/methods, Disease Models, Animal, Dose-Response Relationship, Drug, Embryo, Nonmammalian, Fish Proteins/chemistry/deficiency/*physiology, Gene Expression Regulation, Developmental/drug effects/*genetics, Immunohistochemistry/methods, In Situ Hybridization/methods, In Situ Nick-End Labeling/methods, Indoles/diagnostic use, Membrane Proteins/chemistry/deficiency/metabolism/*physiology, Neurons/*metabolism, Oligonucleotides, Antisense/pharmacology, Presenilin-2, RNA, Messenger/metabolism, Receptors, Notch/metabolism, Reverse Transcriptase Polymerase Chain Reaction/methods, Tumor Suppressor Protein p53/chemistry/*metabolism, Zebrafish, Zebrafish Proteins/deficiency/metabolism.



16. 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]



17. 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]



18. 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.



19. 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.



20. S. Baulac, M. J. LaVoie, J. Strahle, M. G. Schlossmacher, and W. Xia. Dimerization of Parkinson's disease-causing DJ-1 and formation of high molecular weight complexes in human brain. Mol Cell Neurosci, 27(3):236-46, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Animals, Brain/*metabolism/pathology, CHO Cells, COS Cells, Cells, Cultured, Cercopithecus aethiops, Cricetinae, Dimerization, Humans, Intracellular Signaling Peptides and Proteins, Molecular Weight, Oncogene Proteins/genetics/*metabolism, Parkinson Disease/genetics/*metabolism/pathology, Rats, Rats, Sprague-Dawley.



21. 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.



22. 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.



23. S. Baulac, M. J. LaVoie, W. T. Kimberly, J. Strahle, M. S. Wolfe, D. J. Selkoe, and W. Xia. Functional gamma-secretase complex assembly in Golgi/trans-Golgi network: interactions among presenilin, nicastrin, Aph1, Pen-2, and gamma-secretase substrates. Neurobiol Dis, 14(2):194-204, 2003. Note: Ag 17593/ag/niaJournal ArticleResearch Support, Non-U.S. Gov'tResearch Support, U.S. Gov't, P.H.S.United States. [WWW] Keyword(s): Amyloid Precursor Protein Secretases, Animals, Aspartic Endopeptidases, CHO Cells, Cricetinae, Endopeptidases/biosynthesis/*metabolism/physiology, Humans, Membrane Glycoproteins/biosynthesis/*metabolism/physiology, Membrane Proteins/biosynthesis/*metabolism/physiology, Presenilin-1, trans-Golgi Network/chemistry/*metabolism/physiology.

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