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Egidio Spinelli
Observed name:
Spinelli, Egidio
Institutions:
Western University,
London Health Sciences Centre,
Children's Hospital of Western Ontario
Observed institutions:
Northwestern University,
Western University,
Lurie Children's Hospital,
University of Alberta,
London Health Sciences Centre,
Children's Hospital of Western Ontario
show all 6
OpenAlex ID:
A5076459703
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
2019
·
Kathleen M. Gorman
, Esther Meyer
, et al.
·
The American Journal of Human Genetics
·
62
PDF
Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly
2017
·
Nicholas Raun
, Janette Mailo
, et al.
·
American Journal of Medical Genetics Part A
·
48
Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34
2019
·
Ranad Shaheen
, Paul Mark
, et al.
·
Human Mutation
·
36
PDF
Gut Microbiota, the Ketogenic Diet and Epilepsy
2018
·
Egidio Spinelli
, Robyn Blackford
·
Pediatric Neurology Briefs
·
26
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy
2021
·
Egidio Spinelli
, Kyle R. Christensen
, et al.
·
Annals of Neurology
·
19
PDF
Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation
2020
·
Emily M. Bryant
, John J. Millichap
, et al.
·
American Journal of Medical Genetics Part A
·
11
Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants
2025
·
Alessandra Rossi
, Susan X. N. Lin
, et al.
·
Neurology
·
10
PDF
Genotype-Phenotype Landscape of NALCN and UNC80 -Related Disorders
2025
·
Paloma Parra-Díaz
, Arnaud Monteil
, et al.
·
Neurology
·
10
Burst suppression on EEG: Not always an ominous sign
2017
·
Egidio Spinelli
, Sandra Penney
, et al.
·
Seizure
·
4
Making Mindfulness Matter May Improve Quality of Life in Young Children With Epilepsy: Pilot RCT
2025
·
Karina N. Tassiopoulos
, Klajdi Puka
, et al.
·
Pediatrics Open Science
·
3
De novo variants of NALCN differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN current
2025
·
Nawale Hadouiri
, Lidiane Pereira Garcia
, et al.
·
medRxiv
·
3
PDF
Nasal Pain as an Aura to a Complex Partial Seizure
2016
·
Egidio Spinelli
, Abdullah Alkutbi
, et al.
·
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
·
1
PDF
Feasibility of using Making Mindfulness Matter© for children with epilepsy and their parents: A pilot randomized controlled trial
2026
·
Karina N. Tassiopoulos
, Karen Bax
, et al.
·
Epilepsy & Behavior
Phenotypic Spectrum in Individuals With Pathogenic Loss- and Gain-of-Function Variants
2025
·
Rossi, Alessandra
, Lin, Susan X N
, et al.
·
Zurich Open Repository and Archive (University of Zurich)
Teaching Video NeuroImages: Atypical childhood epilepsy with centrotemporal spikes
2019
·
Egidio Spinelli
, Khrystyna Moskalyk
, et al.
·
Neurology
PDF
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Works count:
15
Citation count:
233
H-index:
8
I10-index:
8
Year
Topic
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