Mary D. King

Children's Health Ireland At Temple Street
Dublin, L, Ireland

Last Updated: 09/26/2026

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Found 98 publications

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Journal: ArXiv

Published: February 24, 2025

UBR4 should no longer be considered a candidate gene for episodic ataxia type 8.

UBR4 should no longer be considered a candidate gene for episodic ataxia type 8.

Journal: European journal of human genetics : EJHG

Published: December 17, 2024

Pediatric paroxysmal movement disorders - A clinical epidemiological study in an Irish cohort.

Pediatric paroxysmal movement disorders - A clinical epidemiological study in an Irish cohort.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: September 20, 2024

Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes.

Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes.

Journal: Frontiers in genetics

Published: May 16, 2022

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.

Journal: Neurology

Published: April 28, 2022

4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.

4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.

Journal: Science translational medicine

Published: September 13, 2021

Parental and staff experiences of restricted parental presence on a Neonatal Intensive Care Unit during COVID-19.

Parental and staff experiences of restricted parental presence on a Neonatal Intensive Care Unit during COVID-19.

Journal: Acta paediatrica (Oslo, Norway : 1992)

Published: June 09, 2021

Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.

Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.

Journal: Brain communications

Published: June 02, 2021

Response to treatment and outcomes of infantile spasms in Down syndrome.

Response to treatment and outcomes of infantile spasms in Down syndrome.

Journal: Developmental medicine and child neurology

Published: May 20, 2021

Paroxysmal Movement Disorders.

Paroxysmal Movement Disorders.

Journal: Frontiers in neurology

Published: January 26, 2021

Status Dystonicus, Oculogyric Crisis and Paroxysmal Dyskinesia in a 25 Year-Old Woman with a Novel KCNMA1 Variant, K457E.

Status Dystonicus, Oculogyric Crisis and Paroxysmal Dyskinesia in a 25 Year-Old Woman with a Novel KCNMA1 Variant, K457E.

Journal: Tremor and other hyperkinetic movements (New York, N.Y.)

Published: November 12, 2020

Basal ganglia echogenicity in preterm infants: A case series.

Basal ganglia echogenicity in preterm infants: A case series.

Journal: Journal of neonatal-perinatal medicine

Published: October 19, 2020

Showing 1-12 of 98

Last Updated: 09/26/2026