ES
Egidio Spinelli
Credentials: ·
History
- 2013–2017
Medical School
Research
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
The American Journal of Human Genetics · 2019 · 50 citations
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34
Human Mutation · 2019 · 27 citations
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy
Annals of Neurology · 2021 · Co-first of 37 authors · 18 citations
- JM
4 papers
2 papers
2 papers
- KG
2 papers · 1 as a resident
1 paper
1 paper
1 paper
1 paper · 1 as a fellow
