Mutations of DEPDC5 cause autosomal dominant focal epilepsies

Saeko Ishida, Fabienne Picard, Gabrielle Rudolf, +12

Nature Genetics

MedicineGeneticsNeurogeneticsGenetic Disorder

Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents

Sumeet A. Khetarpal, Katrine T. Schjoldager, Christina Christoffersen, +29

Cell Metabolism

Metabolic SyndromeLipid DisorderBiochemistryPhysiologyHyperlipidemia +9

Role of the phosphoinositide phosphatase <i>FIG4</i> gene in familial epilepsy with polymicrogyria

Stéphanie Baulac, Guy M. Lenk, Béatrice Dufresnois, +14

Neurology

Dynamics of mutated GFAP aggregates revealed by real-time imaging of an astrocyte model of Alexander disease

Cyril Mignot, Cécile Delarasse, Séverine Escaich, +10

Experimental Cell Research

Positron Emission TomographyNeuro-oncologyNuclear MedicineEngineeringGlioma +9

Intercellular adhesion molecule-1: a protective haplotype against multiple sclerosis

Isabelle Cournu‐Rebeix, Emmanuelle Génin, Gaëtan Lesca, +8

Genes and Immunity

Autoimmune DiseaseMedicineCell AdhesionImmunologyMultiple Sclerosis +2

Effects of arginine vasopressin and extracellular osmolarity on atrial natriuretic peptide release by superfused rat atria

Marie A. Zongaso, A. Carayon, Françoise Masson, +6

European Journal of Pharmacology

Arginine VasopressinMedicineVascular PharmacologyPhysiologySuperfused Rat Atria +4

Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes

Zied Landoulsi, Fatma Laatar, Eric Noé, +9

Neurogenetics

Mendelian DisorderGenetic DisorderGeneticsClinical GeneticsGenetic Epidemiology +8

Release of neuropeptide Y and hemodynamic changes during surgical removal of human pheochromocytomas

Joëlle Eurin, C. Barthélémy, Françoise Masson, +6

Regulatory Peptides

Surgical RemovalNeuroendocrine DisorderNeuropeptide YHuman PheochromocytomasEndocrine Surgery +3

Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy

Maha Dahawi, Mohamed S. Elmagzoub, Elhami A. Ahmed, +14

Frontiers in Neurology

GeneticsGenetic EpidemiologyDisease Gene IdentificationGenomicsGenetic Medicine +25