Egidio Spinelli
London, ON, Canada
Last Updated: 09/26/2026
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Found 11 publications
Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.
Journal: Neurology
Published: June 26, 2025
Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders.
Journal: Neurology
Published: March 06, 2025
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Journal: Annals of neurology
Published: March 09, 2021
Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation.
Journal: American journal of medical genetics. Part A
Published: September 17, 2019
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.
Journal: Human mutation
Published: March 04, 2019
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Journal: American journal of human genetics
Published: November 26, 2018
Gut Microbiota, the Ketogenic Diet and Epilepsy.
Journal: Pediatric neurology briefs
Published: October 03, 2018
Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly.
Journal: American journal of medical genetics. Part A
Published: March 06, 2016
Nasal Pain as an Aura to a Complex Partial Seizure.
Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
Published: January 23, 2016
Showing 1-11 of 11
Last Updated: 09/26/2026