The spectrum of intermediate <i><scp>SCN</scp>8A</i>‐related epilepsy

Katrine M. Johannesen, Elena Gardella, Alejandra C. Encinas, +42

Epilepsia

Cell-based assays for the detection of MOG antibodies: a comparative study

Matteo Gastaldi, Silvia Scaranzin, Sven Jarius, +20

Journal of Neurology

Immunocytochemical TechniqueBioanalysisImmunologySerologic TestingAntibody Screening +8

Early Immunotherapy and Longer Corticosteroid Treatment Are Associated With Lower Risk of Relapsing Disease Course in Pediatric MOGAD

Margherita Nosadini, Michael Eyre, Thea Giacomini, +44

Neurology Neuroimmunology & Neuroinflammation

Prognostic relevance of quantitative and longitudinal MOG antibody testing in patients with MOGAD: a multicentre retrospective study

Matteo Gastaldi, Thomas Foiadelli, Giacomo Greco, +28

Journal of Neurology Neurosurgery & Psychiatry

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, +249

The American Journal of Human Genetics

Mendelian DisorderFemale InfertilityWhole-exome Sequencing StudyGenetic DisorderGenetics +7

Epilepsy Course and Developmental Trajectories in <i>STXBP1</i> -DEE

Ganna Balagura, Julie Xian, Antonella Riva, +55

Neurology Genetics

Bortezomib-Responsive Refractory Anti-N-Methyl-d-Aspartate Receptor Encephalitis

Ramona Cordani, Concetta Micalizzi, Thea Giacomini, +12

Pediatric Neurology

ImmunologyBrain-immune InteractionNeurologyMedicineNovel Therapy

Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project

Elisabetta Amadori, Marcello Scala, Giulia Sofia Cereda, +15

˜The œItalian Journal of Pediatrics/Italian journal of pediatrics

Clinical spectrum and genotype-phenotype correlations in PRRT2 Italian patients

Ganna Balagura, Antonella Riva, Francesca Marchese, +29

European Journal of Paediatric Neurology

MedicineGeneticsHuman PolymorphismPathologyMolecular Diagnostics +1

Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience

Rita Fischetto, Valentina Palladino, Maria Margherita Mancardi, +13

Molecular Genetics & Genomic Medicine