2021
Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination
Omer S, Jin SC, Koumangoye R, Robert SM, Duran D, Nelson‐Williams C, Huttner A, DiLuna M, Kahle KT, Delpire E. Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination. Clinical Genetics 2021, 100: 176-186. PMID: 33904160, DOI: 10.1111/cge.13973.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsChildEpilepsyFemaleHumansMaleMice, Inbred C57BLMice, Mutant StrainsMyelin SheathOocytesPeripheral Nervous System DiseasesPotassiumProtein Kinase CRotarod Performance TestSeizuresSymportersXenopus laevisConceptsProtein kinase D1Kainate-induced seizure activityHomozygote micePeripheral nerve diseaseWild-type miceBrain hyperexcitabilityPatient's epilepsyPeripheral neuropathyNerve diseaseSeizure activityHuman epilepsyCotransporter 3Nervous systemProgressive epilepsyHeterozygote miceHuman nervous systemPKD1 variantsMiceEpilepsyInactivating variantPotential targetSignificant increaseNovel roleDiseaseLocomotor behavior
2020
Reply to: What is the pattern of the neuropathy associated with anti‐FGFR3 antibodies?
Roy B, Kovvuru S, Castillo Y, Huttner A, Nowak R. Reply to: What is the pattern of the neuropathy associated with anti‐FGFR3 antibodies? European Journal Of Neurology 2020, 27: e59-e59. PMID: 32503081, DOI: 10.1111/ene.14381.Peer-Reviewed Original ResearchAntibodiesHumansPeripheral Nervous System DiseasesPolyneuropathiesReceptor, Fibroblast Growth Factor, Type 3Retrospective Studies