Publications by authors named "Mary D King"

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UBR4 should no longer be considered a candidate gene for episodic ataxia type 8.
Susan Harvey, Mary D King, Sally Ann Lynch, Kathleen M Gorman

Eur J Hum Genet· April 2025

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Pediatric paroxysmal movement disorders - A clinical epidemiological study in an Irish cohort.
Susan Harvey, Nicholas M Allen, Susan Byrne, Bryan Lynch, Niamh McSweeney, Mary D King

Eur J Paediatr Neurol· March 2025

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-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Mary D King

ArXiv· February 2025

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Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of .
Hannah C Happ, Lynette G Sadleir, Matthew Zemel, Guillem de Valles-Ibáñez, Michael S Hildebrand, Mary D King

Neurology· February 2023

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Response to treatment and outcomes of infantile spasms in Down syndrome.
Susan Harvey, Nicholas M Allen, Mary D King, Bryan Lynch, Sally A Lynch

Dev Med Child Neurol· June 2022

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Persistent sodium currents in developmental and degenerative epileptic dyskinetic encephalopathy.
Kathleen M Gorman, Colin H Peters, Bryan Lynch, Laura Jones, Dani S Bassett, Mary D King

Brain Commun· October 2021

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4-Aminopyridine is a promising treatment option for patients with gain-of-function -encephalopathy.
Ulrike B S Hedrich, Stephan Lauxmann, Markus Wolff, Matthis Synofzik, Thomas Bast, Mary D King

Sci Transl Med· September 2021

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Paroxysmal Movement Disorders.
Susan Harvey, Mary D King, Kathleen M Gorman

Front Neurol· June 2021

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Fifteen-minute consultation: Approach to investigation and management of childhood dystonia.
Eva Bridget Forman, Mary D King, Kathleen M Gorman

Arch Dis Child Educ Pract Ed· April 2021

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Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.
Sara Zagaglia, Dora Steel, S Krithika, Laura Hernandez-Hernandez, Helena Martins Custodio, Mary D King

Neurology· March 2021

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Moyamoya disease and moyamoya syndrome in Ireland: patient demographics, mode of presentation and outcomes of EC-IC bypass surgery.
Ronan J Doherty, John Caird, Darach Crimmins, Peter Kelly, Sean Murphy, Mary D King

Ir J Med Sci· February 2021

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FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Amy L Schneider, Candace T Myers, Alison M Muir, Sophie Calvert, Alice Basinger, Mary D King

Epilepsia· January 2021

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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, Mary D King

Brain· December 2020

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Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T>G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C).
Alessia Arbini, James Gilmore, Mary D King, Kathleen M Gorman, Janusz Krawczyk

Stem Cell Res· July 2020

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Catatonic features in children and adolescents with -methyl-d-aspartate receptor antibody encephalitis.
Michael Eyre, Anya Kaushik, Elizabeth Barrett, Mary D King, Thomas Pollak

BJPsych Open· July 2020

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Expansion of the phenotype of biallelic variants in TRIT1.
Karina M Forde, Ben Molloy, Judith Conroy, Andrew J Green, Mary D King

Eur J Med Genet· June 2020

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The phenotypic spectrum of SCN2A-related epilepsy.
Claire Reynolds, Mary D King, Kathleen M Gorman

Eur J Paediatr Neurol· January 2020

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Genetic potassium channel-associated epilepsies: Clinical review of the K family.
Nicholas M Allen, Sarah Weckhuysen, Kathleen Gorman, Mary D King, Holger Lerche

Eur J Paediatr Neurol· January 2020

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"No-No" Head Tremor-A Nod to the Diagnosis.
Ciara Terry, Eva B Forman, Kathleen M Gorman, Mary D King

Pediatr Neurol· November 2019

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A Quiver of the Chin.
Colin P McGrath, Kathleen M Gorman, Mary D King

Pediatr Neurol· October 2019

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Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum.
Eva B Forman, Kathleen M Gorman, Sean Ennis, Mary D King

J Child Neurol· September 2019

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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Kathleen M Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Mary D King

Am J Hum Genet· May 2019

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Hearing impairment and hypoxia ischaemic encephalopathy: Incidence and associated factors.
Michael P Fitzgerald, Adam Reynolds, Cliona Mc Garvey, Gary Norman, Mary D King

Eur J Paediatr Neurol· January 2019

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Dramatic Improvement of a Rare Syndrome With High Dose Riboflavin Treatment.
Eva B Forman, A Reghan Foley, Mary D King

Pediatr Neurol· September 2018

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Identification of Leptomeningeal Medulloblastoma with Contrast-Enhanced Magnetic Resonance Imaging: A Devastating Differential of Acute Disseminated Encephomyelitis.
Sinead M McGlacken-Byrne, Kathleen M Gorman, Niamh K Lagan, Ian Robinson, Michael Farrell, Mary D King

J Paediatr Child Health· August 2018

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