Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

Andrew Escayg, Bryan T. MacDonald, Miriam H. Meisler, +9

Nature Genetics

Neuronal Sodium ChannelChannelopathiesMolecular NeuroscienceMolecular PhysiologyNeurophysiology +9

Identification of a New Locus for Generalized Epilepsy with Febrile Seizures Plus (GEFS+) on Chromosome 2q24-q33

Bruno Moulard, Denys Chaigne, Dominique Mouthon, +3

The American Journal of Human Genetics

Generalized EpilepsyMendelian DisorderCytogeneticsGenetic DisorderGenetics +7

Apolipoprotein E genotyping in sporadic amyotrophic lateral sclerosis: evidence for a major influence on the clinical presentation and prognosis

Bruno Moulard, Abdelaziz Sefiani, Aboubakr Laamri, +2

Journal of the Neurological Sciences

Neurodegenerative DiseasesAmyotrophic Lateral SclerosisApolipoprotein ENeurological DisorderClinical Presentation +6

Association between centromeric deletions of the <i>SMN</i> gene and sporadic adult‐onset lower motor neuron disease

Bruno Moulard, François Salachas, B. Chassande, +4

Annals of Neurology

Identification of Six Novel SOD1 Gene Mutations in Familial Amyotrophic Lateral Sclerosis

Youssef Boukaftane, Jawad Khoris, Bruno Moulard, +5

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

A nonsense mutation in the α4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBNI)

Christian Beck, Bruno Moulard, Ortrud K. Steinlein, +5

Neurobiology of Disease

α4 SubunitGenetic DisorderGeneticsNeuroscienceNicotinic Acetylcholine Receptor +5

Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME

Tom Moore, Stéphane Hecquet, Andrew McLellann, +12

Epilepsy Research

Knockout MousePolymorphism AnalysisDevelopmental BiologyGenetic DisorderGenetics +6

Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu,Zn superoxide dismutase mutation within the same country

Jawad Khoris, Bruno Moulard, Valérie Briolotti, +6

European Journal of Neurology

NeurogenomicsNeurological DisorderGeneticsGenetic EpidemiologyPathology +21

Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations

Bruno Moulard, Pierre Genton, Djamel Grid, +22

Human Genetics

Allelic VariantHaplotype DeterminationGenetic DisorderMedicineGenetics +7

GABA_B Receptor 1 Polymorphism (G1465A) and Temporal Lobe Epilepsy

Annick Salzmann, Bruno Moulard, Arielle Crespel, +3

Epilepsia