Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, +234

The American Journal of Human Genetics

Allelic VariantUltra-rare Genetic VariationWhole-exome Sequencing StudyGeneticsGenetic Disorder +8

Neurologic phenotypes associated with <i>COL4A1</i> / <i>2</i> mutations

Sara Zagaglia, C. Selch, Jelena Radić Nišević, +45

Neurology

Cerebrospinal fluid lactate is associated with multiple sclerosis disease progression

Maria Albanese, Sara Zagaglia, Doriana Landi, +8

Journal of Neuroinflammation

No evidence of beneficial effects of plasmapheresis in natalizumab-associated PML

Doriana Landi, Nicola De Rossi, Sara Zagaglia, +9

Neurology

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

RANTES correlates with inflammatory activity and synaptic excitability in multiple sclerosis

Francesco Mori, Robert Nisticò, Carolina Gabri Nicoletti, +9

Multiple Sclerosis Journal

Transient Receptor Potential Vanilloid 1 Modulates Central Inflammation in Multiple Sclerosis

Mario Stampanoni Bassi, Antonietta Gentile, Ennio Iezzi, +12

Frontiers in Neurology

Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy

Katri Silvennoinen, Nikola de Lange, Sara Zagaglia, +28

Epilepsia Open

Cardiac Investigations in Sudden Unexpected Death in <scp><i>DEPDC5</i></scp>‐Related Epilepsy

Alexandre Bacq, Delphine Roussel, Thomas Bonduelle, +11

Annals of Neurology

<i>RHOBTB2</i> Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood

Sara Zagaglia, Dora Steel, S. Krithika, +25

Neurology