Featured Publications
Gerstmann Syndrome Deconstructed by Cortical Stimulation
Vaddiparti A, McGrath H, Benjamin C, Sivaraju A, Spencer DD, Hirsch LJ, Damisah E, Quraishi IH. Gerstmann Syndrome Deconstructed by Cortical Stimulation. Neurology 2021, 97: 420-422. PMID: 34187861, PMCID: PMC9246017, DOI: 10.1212/wnl.0000000000012441.Peer-Reviewed Original Research
2021
Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome
Quraishi IH, Szekely AM, Shirali AC, Mistry PK, Hirsch LJ. Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome. Neurology Genetics 2021, 7: e614. PMID: 34337151, PMCID: PMC8320328, DOI: 10.1212/nxg.0000000000000614.Peer-Reviewed Original ResearchAction myoclonus-renal failure syndromeNeurologic symptomsAction myoclonusFailure syndromeProgressive myoclonic epilepsySubstrate reduction therapyWhole-exome sequencingMiglustat therapyAvailable medicationsEarly mortalityReduction therapyMyoclonic epilepsySteady worseningGaucher diseaseMyoclonusGlycosphingolipid metabolismExome sequencingGene mutationsGlucosylceramide accumulationPatientsSeizuresMiglustatSyndromeTherapySymptoms