Clinical and Biochemical Phenotype in 11 Patients With Mevalonic Aciduria

G.F. Hoffmann, C. Charpentier, Ertan Mayatepek, +11

PEDIATRICS

Mecp2 Deficiency Disrupts Norepinephrine and Respiratory Systems in Mice

Jean‐Charles Viemari, Jean‐Christophe Roux, Andrew K. Tryba, +12

Journal of Neuroscience

Mecp2-/y MiceNeurodegenerative DiseasesMolecular PhysiologyMendelian DisorderLung Inflammation +12

Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome

Jean‐Christophe Roux, Emmanuelle Dura, Anne Moncla, +2

European Journal of Neuroscience

Age-Dependent Mendelian Predisposition to Herpes Simplex Virus Type 1 Encephalitis in Childhood

Laurent Abel, Sabine Plancoulaine, Emmanuelle Jouanguy, +30

The Journal of Pediatrics

Age-dependent Mendelian PredispositionPathogenesisVirologyHerpesvirusesMedicine +1

Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling

Anne Moncla, Perrine Malzac, Marie-Odile Livet, +5

Journal of Medical Genetics

Developmental AnomalyClinical DisordersMendelian DisorderPsychiatryGenetic Disorder +13

Severe phenotypic spectrum of biallelic mutations in<i>PRRT2</i>gene

Marion Delcourt, Florence Riant, Josette Mancini, +14

Journal of Neurology Neurosurgery & Psychiatry

Topiramate: efficacy and tolerability in children according to epilepsy syndromes

Yann Mikaeloff, Anne de Saint Martin, Josette Mancini, +8

Epilepsy Research

Psychotropic MedicationNeuropharmacologyNeuropsychiatryNeuroscienceNeurology +3

Surgical strategies and seizure control in pediatric patients with dysembryoplastic neuroepithelial tumors: a single-institution experience

Krasimir Minkin, Olivier Klein, Josette Mancini, +1

Journal of Neurosurgery Pediatrics

Ischemic Cerebrovascular Disease in Children: Retrospective Study of 35 Patients

Josette Mancini, Nadine Girard, B. Chabrol, +4

Journal of Child Neurology

The Incidence of Rett Syndrome in France

Thierry Bienvenu, Christophe Philippe, Nicolás de Roux, +10

Pediatric Neurology

Genetic DisorderRett SyndromeEpidemiologic ResearchInternational HealthDiagnosis +3