Publications by authors named "Kathleen M Gorman"

31Publications

A Case of Visual Hallucinations in an Adolescent Girl With Cortical Visual Impairment: Seeing but Not Believing.

Clin Pediatr (Phila) 2021 Feb 11;60(2):139-143. Epub 2020 Nov 11.

Children's Health Ireland at Temple Street, Dublin, Ireland.

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February 2021

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

Authors:
Laura Cif Diane Demailly Jean-Pierre Lin Katy E Barwick Mario Sa Lucia Abela Sony Malhotra Wui K Chong Dora Steel Alba Sanchis-Juan Adeline Ngoh Natalie Trump Esther Meyer Xavier Vasques Julia Rankin Meredith W Allain Carolyn D Applegate Sanaz Attaripour Isfahani Julien Baleine Bettina Balint Jennifer A Bassetti Emma L Baple Kailash P Bhatia Catherine Blanchet Lydie Burglen Gilles Cambonie Emilie Chan Seng Sandra Chantot Bastaraud Fabienne Cyprien Christine Coubes Vincent d'Hardemare Asif Doja Nathalie Dorison Diane Doummar Marisela E Dy-Hollins Ellyn Farrelly David R Fitzpatrick Conor Fearon Elizabeth L Fieg Brent L Fogel Eva B Forman Rachel G Fox William A Gahl Serena Galosi Victoria Gonzalez Tracey D Graves Allison Gregory Mark Hallett Harutomo Hasegawa Susan J Hayflick Ada Hamosh Marie Hully Sandra Jansen Suh Young Jeong Joel B Krier Sidney Krystal Kishore R Kumar Chloé Laurencin Hane Lee Gaetan Lesca Laurence Lion François Timothy Lynch Neil Mahant Julian A Martinez-Agosto Christophe Milesi Kelly A Mills Michel Mondain Hugo Morales-Briceno John R Ostergaard Swasti Pal Juan C Pallais Frédérique Pavillard Pierre-Francois Perrigault Andrea K Petersen Gustavo Polo Gaetan Poulen Tuula Rinne Thomas Roujeau Caleb Rogers Agathe Roubertie Michelle Sahagian Elise Schaefer Laila Selim Richard Selway Nutan Sharma Rebecca Signer Ariane G Soldatos David A Stevenson Fiona Stewart Michel Tchan Ishwar C Verma Bert B A de Vries Jenny L Wilson Derek A Wong Raghda Zaitoun Dolly Zhen Anna Znaczko Russell C Dale Claudio M de Gusmão Jennifer Friedman Victor S C Fung Mary D King Shekeeb S Mohammad Luis Rohena Jeff L Waugh Camilo Toro F Lucy Raymond Maya Topf Philippe Coubes Kathleen M Gorman Manju A Kurian

Brain 2020 Dec;143(11):3242-3261

Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.

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December 2020

Should levetiracetam rather than phenobarbitone be the first-line treatment for neonatal seizures?

Arch Dis Child 2020 Oct 23. Epub 2020 Oct 23.

Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland

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October 2020

Fifteen-minute consultation: Approach to investigation and management of childhood dystonia.

Arch Dis Child Educ Pract Ed 2020 Sep 14. Epub 2020 Sep 14.

Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland

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September 2020

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).

Stem Cell Res 2020 07 1;46:101853. Epub 2020 Jun 1.

Department of Paediatrics, School of Medicine, National University of Ireland Galway, Ireland; Regenerative Medicine Institute, School of Medicine, National University of Ireland Galway, Ireland. Electronic address:

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July 2020

Disappearing act: COVID-19 and paediatric emergency department attendances.

Arch Dis Child 2020 08 9;105(8):810-811. Epub 2020 Jun 9.

Emergency Department, Temple Street Children's University Hospital, Dublin, Ireland

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August 2020

Expansion of the phenotype of biallelic variants in TRIT1.

Eur J Med Genet 2020 Jun 20;63(6):103882. Epub 2020 Feb 20.

Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Temple Street, D01 YC67, Ireland; University College Dublin School of Medicine and Medical Science, University College Dublin, Ireland. Electronic address:

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June 2020

The phenotypic spectrum of SCN2A-related epilepsy.

Eur J Paediatr Neurol 2020 Jan 12;24:117-122. Epub 2019 Dec 12.

Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin 1, Ireland; School of Medicine and Medical Sciences, University College Dublin, Dublin 4, Ireland. Electronic address:

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January 2020

Remote poststroke headache in children: Characteristics and association with stroke recurrence.

Neurol Clin Pract 2019 Jun;9(3):194-200

Department of Pediatrics (ABC, JEK, LGE), Division of Neurology, Northwestern University Feinberg School of Medicine; Ruth D. & Ken M. Davee Pediatric Neurocritical Care Program (JEK, KMG), Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine; Department of Preventive Medicine (LCB, JDC), Northwestern University Feinberg School of Medicine, Chicago, IL; and Division of Pediatric Neurology (MSW), University of Washington Medical School, Seattle.

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June 2019

A Quiver of the Chin.

Pediatr Neurol 2019 10 2;99:91. Epub 2019 May 2.

Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.

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October 2019

Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum.

J Child Neurol 2019 09 19;34(10):621. Epub 2019 May 19.

Department of Neurology and Neurophysiology, Children's University Hospital, Dublin, Ireland.

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September 2019

"No-No" Head Tremor-A Nod to the Diagnosis.

Pediatr Neurol 2019 11 19;100:104. Epub 2019 Mar 19.

Department of Neurology and Neurophysiology, Temple Street Children's University Hospital, Dublin, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.

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November 2019

Identification of Leptomeningeal Medulloblastoma with Contrast-Enhanced Magnetic Resonance Imaging: A Devastating Differential of Acute Disseminated Encephomyelitis.

J Paediatr Child Health 2018 08;54(8):929-930

Department of Paediatric Neurology and Clinical Neurophysiology, Temple St Children's University Hospital, Dublin, Ireland.

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August 2018

NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.

Eur J Med Genet 2019 Mar 18;62(3):204-209. Epub 2018 Jul 18.

Department of Clinical Genetics, OLCHC, Dublin12, Ireland; Children's University Hospital, Temple St., Dublin, Ireland; Academic Center on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.

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March 2019

Status dystonicus due to missense variant in ARX: Diagnosis and management.

Eur J Paediatr Neurol 2018 Sep 3;22(5):862-865. Epub 2018 May 3.

Department of Paediatrics, National University of Ireland, Galway, Galway University Hospital, Ireland. Electronic address:

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September 2018