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Publications of E. LeGuern
Articles in journal or book chapters
  1. 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]


  2. 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.


  3. C. Cazeneuve, C. San, S. A. Ibrahim, M. M. Mukhtar, M. M. Kheir, E. Leguern, A. Brice, and M. A. Salih. A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease. Neurogenetics, 2009. Note: Journal article. [WWW]


  4. F. Clot, D. Grabli, C. Cazeneuve, E. Roze, P. Castelnau, B. Chabrol, P. Landrieu, K. Nguyen, G. Ponsot, M. Abada, D. Doummar, P. Damier, R. Gil, S. Thobois, A. J. Ward, M. Hutchinson, A. Toutain, F. Picard, A. Camuzat, E. Fedirko, C. San, D. Bouteiller, E. LeGuern, A. Durr, M. Vidailhet, and A. Brice. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain, 132(Pt 7):1753-63, 2009. Note: French Dystonia NetworkJournal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW]


  5. 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]


  6. 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]


  7. C. Depienne, D. Moreno-De-Luca, D. Heron, D. Bouteiller, A. Gennetier, R. Delorme, P. Chaste, J. P. Siffroi, S. Chantot-Bastaraud, B. Benyahia, O. Trouillard, G. Nygren, S. Kopp, M. Johansson, M. Rastam, L. Burglen, E. Leguern, A. Verloes, M. Leboyer, A. Brice, C. Gillberg, and C. Betancur. Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders. Biol Psychiatry, 66(4):349-359, 2009. Note: Journal article. [WWW]


  8. 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.


  9. 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.


  10. M. C. Hannibal, E. K. Ruzzo, L. R. Miller, B. Betz, J. G. Buchan, D. M. Knutzen, K. Barnett, M. L. Landsverk, A. Brice, E. LeGuern, H. M. Bedford, B. B. Worrall, S. Lovitt, S. H. Appel, E. Andermann, T. D. Bird, and P. F. Chance. SEPT9 gene sequencing analysis reveals recurrent mutations in hereditary neuralgic amyotrophy. Neurology, 72(20):1755-9, 2009. Note: NS38181/NS/NINDS NIH HHS/United StatesJournal ArticleResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tUnited States. [WWW]


  11. 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]


  12. 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]


  13. 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.


  14. D. Seilhean, C. Cazeneuve, V. Thuries, O. Russaouen, S. Millecamps, F. Salachas, V. Meininger, E. Leguern, and C. Duyckaerts. Accumulation of TDP-43 and alpha-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation. Acta Neuropathol, 118(4):561-573, 2009. Note: Journal article. [WWW]


  15. K. Vahedi, C. Depienne, D. Le Fort, F. Riant, P. Chaine, O. Trouillard, A. Gaudric, M. A. Morris, E. Leguern, E. Tournier-Lasserve, and M. G. Bousser. Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations. Neurology, 72(13):1178-83, 2009. Note: Case ReportsJournal ArticleReviewUnited States. [WWW] Keyword(s): Adolescent, Amaurosis Fugax/complications/*genetics, Amino Acid Sequence, Circadian Rhythm/*genetics, Female, Humans, Male, Migraine with Aura/complications/*genetics, Molecular Sequence Data, Mutation, Missense/*genetics, Nerve Tissue Proteins/*genetics, Pedigree, *Phenotype, Recurrence, Sequence Alignment, Sodium Channels/*genetics.


  16. 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.


  17. 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.


  18. J. El Helou, V. Navarro, C. Depienne, E. Fedirko, E. Leguern, M. Baulac, I. An-Gourfinkel, and C. Adam. K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy. Clin Neurophysiol, 119(10):2201-2204, 2008. Note: Journal articleofficial journal of the International Federation of Clinical Neurophysiology. [WWW]


  19. 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]


  20. 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]


  21. A. Bouhouche, N. Birouk, H. Azzedine, A. Benomar, G. Durosier, D. Ente, M. P. Muriel, M. Ruberg, I. Slassi, M. Yahyaoui, O. Dubourg, R. Ouazzani, and E. LeGuern. Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families. Brain, 130:1062-1075, 2007. Note: Part 4. [WWW]


  22. 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]


  23. 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]


  24. A. Chojnowski, N. Ravise, C. Bachelin, C. Depienne, M. Ruberg, B. Brugg, J. Laporte, A. Baron-Van Evercooren, and E. LeGuern. Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells. Neurobiol Dis, 26(2):323-31, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Animals, Animals, Newborn, Apoptosis/drug effects/genetics, Caspases/metabolism, Cell Death/drug effects/genetics, Cell Proliferation, Cells, Cultured, Charcot-Marie-Tooth Disease/*genetics/metabolism/physiopathology, Culture Media, Serum-Free/pharmacology, Down-Regulation/drug effects/genetics, Gene Expression Profiling, Gene Expression Regulation, Developmental/genetics, *Gene Silencing, Myelin Sheath/*genetics/metabolism/pathology, Peripheral Nerves/*metabolism/pathology/physiopathology, Protein Tyrosine Phosphatases/*genetics, Protein Tyrosine Phosphatases, Non-Receptor, RNA Interference, Rats, Schwann Cells/*metabolism/pathology.


  25. C. Depienne, D. Heron, C. Betancur, B. Benyahia, O. Trouillard, D. Bouteiller, A. Verloes, E. LeGuern, M. Leboyer, and A. Brice. Autism, language delay and mental retardation in a patient with 7q11 duplication. J Med Genet, 44(7):452-8, 2007. Note: LetterResearch Support, Non-U.S. Gov'tEngland. [WWW]


  26. 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.


  27. G. Stevanin, F. M. Santorelli, H. Azzedine, P. Coutinho, J. Chomilier, P. S. Denora, E. Martin, A. M. Ouvrard-Hernandez, A. Tessa, N. Bouslam, A. Lossos, P. Charles, J. L. Loureiro, N. Elleuch, C. Confavreux, V. T. Cruz, M. Ruberg, E. Leguern, D. Grid, M. Tazir, B. Fontaine, A. Filla, E. Bertini, A. Durr, and A. Brice. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet, 39(3):366-372, 2007. Note: Journal article. [WWW]


  28. H. Azzedine, N. Ravise, C. Verny, A. Gabreels-Festen, M. Lammens, D. Grid, J. M. Vallat, G. Durosier, J. Senderek, S. Nouioua, T. Hamadouche, A. Bouhouche, A. Guilbot, C. Stendel, M. Ruberg, A. Brice, N. Birouk, O. Dubourg, M. Tazir, and E. LeGuern. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. Neurology, 67(4):602-6, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Charcot-Marie-Tooth Disease/*epidemiology/*genetics, Chromosome Mapping, DNA Mutational Analysis, Female, France/epidemiology, Genetic Predisposition to Disease/epidemiology/genetics, Humans, Incidence, Male, Mutation, Pedigree, Risk Assessment/*methods, Risk Factors, Spinal Curvatures/*epidemiology/*genetics, Spine/*abnormalities.


  29. 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]


  30. 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]


  31. O. Dubourg, H. Azzedine, C. Verny, G. Durosier, N. Birouk, R. Gouider, M. Salih, A. Bouhouche, A. Thiam, D. Grid, M. Mayer, M. Ruberg, M. Tazir, A. Brice, and E. LeGuern. Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med, 8(1-2):75-86, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW]


  32. O. Dubourg, H. Azzedine, R. B. Yaou, J. Pouget, A. Barois, V. Meininger, D. Bouteiller, M. Ruberg, A. Brice, and E. LeGuern. The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. Neurology, 66(11):1721-6, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Age of Onset, DNA Mutational Analysis, Family, Female, France/epidemiology, Genetic Predisposition to Disease/epidemiology/genetics, Glycine-tRNA Ligase/*genetics, Heterozygote, Humans, Incidence, Jews/genetics, Muscular Atrophy, Spinal/*epidemiology/*genetics, Mutation, Risk Assessment/*methods, Risk Factors.


  33. J. El Helou, V. Navarro, I. An, C. Depienne, E. Leguern, and C. Adam. Complex as a triggering factor for seizures in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). Epilepsia, 47:108-108, 2006. Note: Suppl. 3. [WWW]


  34. 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]


  35. H. Rauschka, B. Colsch, N. Baumann, R. Wevers, M. Schmidbauer, M. Krammer, J. C. Turpin, M. Lefevre, C. Olivier, S. Tardieu, W. Krivit, H. Moser, A. Moser, V. Gieselmann, B. Zalc, T. Cox, U. Reuner, A. Tylki-Szymanska, F. Aboul-Enein, E. LeGuern, H. Bernheimer, and J. Berger. Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype. Neurology, 67(5):859-63, 2006. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Cerebroside-Sulfatase/*genetics/metabolism, Child, Electroencephalography/methods, Female, Genotype, Humans, Isoleucine/genetics, Leucine/genetics, Leukodystrophy, Metachromatic/*genetics/physiopathology, Magnetic Resonance Imaging/methods, Male, Mutation, Neural Conduction/genetics/physiology, *Phenotype, Proline/genetics, Statistics, Nonparametric.


  36. 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.


  37. M. Naimi, S. Tardieu, C. Depienne, M. Ruberg, A. Brice, O. Dubourg, and E. Leguern. Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements. Am J Med Genet A, 136(2):136-9, 2005. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Charcot-Marie-Tooth Disease/genetics/pathology, Chromatography, High Pressure Liquid/*methods, *Chromosome Aberrations, Chromosomes, Human, Pair 17/genetics, DNA/genetics, Gene Dosage, Hereditary Motor and Sensory Neuropathies/genetics/pathology, Humans, Myelin Proteins/genetics, Paralysis/genetics/pathology, Polymerase Chain Reaction, Prospective Studies, Reproducibility of Results.


  38. 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.


  39. C. Crest, S. Dupont, E. Leguern, C. Adam, and M. Baulac. Levetiracetam in progressive myoclonic epilepsy: an exploratory study in 9 patients. Neurology, 62(4):640-3, 2004. Note: Journal ArticleUnited States. [WWW] Keyword(s): Activities of Daily Living, Adolescent, Anticonvulsants/administration & dosage/*therapeutic use, Child, Drug Evaluation, Drug Therapy, Combination, Female, Humans, MERRF Syndrome/*drug therapy, Male, Piracetam/administration & dosage/*analogs & derivatives/*therapeutic use, Treatment Outcome, Unverricht-Lundborg Syndrome/*drug therapy.


  40. 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.


  41. 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.


  42. M. Tazir, H. Azzedine, S. Assami, P. Sindou, S. Nouioua, R. Zemmouri, T. Hamadouche, M. Chaouch, J. Feingold, J. M. Vallat, E. Leguern, and D. Grid. Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C. Brain, 127(Pt 1):154-63, 2004. Note: Journal ArticleResearch Support, Non-U.S. Gov'tEnglanda journal of neurology. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Charcot-Marie-Tooth Disease/*genetics/pathology/physiopathology, Child, Chromosomes, Human, Pair 1/genetics, Disease Progression, Female, Genes, Recessive, Humans, Lamin Type A/*genetics, Male, Median Nerve/physiopathology, *Mutation, Nerve Fibers, Myelinated/pathology, Nerve Fibers, Unmyelinated/pathology, Neural Conduction, Phenotype.


  43. C. Verny, N. Ravise, A. L. Leutenegger, F. Pouplard, O. Dubourg, S. Tardieu, F. Dubas, A. Brice, E. Genin, and E. LeGuern. Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family. Neurology, 63(8):1527-9, 2004. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Charcot-Marie-Tooth Disease/*genetics, *Chromosome Aberrations, Chromosomes, Human, Pair 17/*genetics, DNA Mutational Analysis, Disease Progression, Family Health, Female, Genes, Recessive/genetics, Genetic Predisposition to Disease/*genetics, Genetic Screening, Humans, Inheritance Patterns/*genetics, Male, Muscle Weakness/genetics/pathology/physiopathology, Mutation/*genetics, Nerve Fibers, Myelinated/pathology, Pedigree, Peripheral Nerves/pathology/physiopathology, Protein-Tyrosine-Phosphatase/genetics.


  44. H. Azzedine, A. Bolino, T. Taieb, N. Birouk, M. Di Duca, A. Bouhouche, S. Benamou, A. Mrabet, T. Hammadouche, T. Chkili, R. Gouider, R. Ravazzolo, A. Brice, J. Laporte, and E. LeGuern. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am J Hum Genet, 72(5):1141-53, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Age of Onset, Amino Acid Sequence, Carrier Proteins/*genetics, Charcot-Marie-Tooth Disease/complications/*genetics, Child, Child, Preschool, Chromosomes, Human, Pair 11/genetics, Consanguinity, DNA Mutational Analysis, Demyelinating Diseases/complications/*genetics, Female, Genes, Recessive, Glaucoma/complications/*genetics, Humans, *Intracellular Signaling Peptides and Proteins, Male, Molecular Sequence Data, Morocco, Mutation, Phosphoric Monoester Hydrolases/genetics, Physical Chromosome Mapping, Protein-Tyrosine-Phosphatase/*genetics, Sequence Homology, Amino Acid, Syndrome, Tunisia.


  45. H. Azzedine, M. Ruberg, D. Ente, C. Gilardeau, S. Perie, B. Wechsler, A. Brice, E. LeGuern, and O. Dubourg. Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. Neuromuscul Disord, 13(4):341-6, 2003. Note: Case ReportsJournal ArticleResearch Support, Non-U.S. Gov'tEnglandNmd. [WWW] Keyword(s): Adult, Arginine/genetics, Charcot-Marie-Tooth Disease/*genetics, DNA Mutational Analysis, Disease Progression, Electrophysiology, Family, Female, Genes, Recessive, Glutamine/genetics, Humans, Male, *Mutation, Nerve Tissue Proteins/*genetics, Pedigree, Phenotype, Serine/genetics.


  46. 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.


  47. M. Nagura, Y. Nagao, J. Takita, T. Igarashi, E. LeGuern, and Y. Hayashi. The kinesin superfamily protein Rab6KIFL is not involved in the pathophysiology of Charcot-Marie-Tooth disease type 4C. Int J Mol Med, 11(1):45-7, 2003. Note: Journal ArticleGreece. [WWW] Keyword(s): Base Sequence, Charcot-Marie-Tooth Disease/*genetics/physiopathology, Chromosome Mapping, *Chromosomes, Human, Pair 5, DNA Primers, Exons, Female, Humans, Kinesin/*genetics, Male, Pedigree.


  48. N. Ravise, O. Dubourg, S. Tardieu, F. Aurias, M. Mercadiel, P. Coullin, M. Ruberg, M. Catala, S. Lesourd, A. Brice, and E. LeGuern. Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): a prospective study of 130 patients with inherited peripheral neuropathies. Am J Med Genet A, 118(1):43-8, 2003. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Charcot-Marie-Tooth Disease/diagnosis/genetics, *Chromosome Aberrations, *Chromosomes, Human, Pair 17, Humans, In Situ Hybridization, Fluorescence, Paralysis/genetics, Peripheral Nervous System Diseases/diagnosis/genetics.



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