Chontelle M. King
Wellington, WGN, New Zealand
Last Updated: 09/26/2026
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Found 11 publications
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: medRxiv : the preprint server for health sciences
Published: September 15, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: Nature genetics
Published: September 02, 2025
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Journal: medRxiv : the preprint server for health sciences
Published: March 03, 2023
Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.
Journal: Epilepsia open
Published: May 03, 2021
Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families.
Journal: Epilepsia open
Published: June 30, 2020
Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: December 01, 2019
Double somatic mosaicism in a child with Dravet syndrome.
Journal: Neurology. Genetics
Published: January 23, 2019
Parental Mosaicism in "De Novo" Epileptic Encephalopathies.
Journal: The New England journal of medicine
Published: April 26, 2018
Structural basis of autoregulatory scaffolding by apoptosis signal-regulating kinase 1.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: March 01, 2017
Showing 1-11 of 11
Last Updated: 09/26/2026