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Author Details

Kathleen M Gorman
University College Dublin
2011
66
16
PMIDPaper TitleJournal TitlePublished Year
37491519Eculizumab in STEC-HUS: a paradigm shift in the management of pediatric patients with neurological involvement.Pediatr Nephrol2024
36307226Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>.Neurology2023
37666206Relationship Between Electroencephalography and Seizure Outcome in Typical Absence Seizures in Children.Pediatr Neurol2023
35554567Transitional care models in adolescent kidney transplant recipients-a systematic review.Nephrol Dial Transplant2023
37422919Everolimus precision therapy for the GATOR1-related epilepsies: A case series.Eur J Neurol2023
36564538Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.Eur J Hum Genet2023
34378062Neurological involvement in children with hemolytic uremic syndrome.Eur J Pediatr2022
36247903Freezing of Gait as a Complication of Pallidal Deep Brain Stimulation in DYT-<i>KMT2B</i> Patients with Evidence of Striatonigral Degeneration.Mov Disord Clin Pract2022
36147485Editorial: Improving medical diagnosis in rare diseases.Front Genet2022
36186440Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the <i>TMCO1</i> and <i>PRKRA</i> genes.Front Genet2022
35914810Novel &amp;lt;i&amp;gt;DNM1L&amp;lt;/i&amp;gt; variants impair mitochondrial dynamics through divergent mechanisms.Life Sci Alliance2022
35876425MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.Mov Disord2022
35092693Response to treatment and outcomes of infantile spasms in Down syndrome.Dev Med Child Neurol2022
32928841Fifteen-minute consultation: Approach to investigation and management of childhood dystonia.Arch Dis Child Educ Pract Ed2021
33730283Unexpected diagnosis in a child with hemolytic uremic syndrome: Questions.Pediatr Nephrol2021
33504645<i>RHOBTB2</i> Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.Neurology2021
33774718Vaccine hesitancy and reported non-vaccination in an Irish pediatric outpatient population.Eur J Pediatr2021
34755109Persistent sodium currents in <i>SCN1A</i> developmental and degenerative epileptic dyskinetic encephalopathy.Brain Commun2021
345168224-Aminopyridine is a promising treatment option for patients with gain-of-function <i>KCNA2</i>-encephalopathy.Sci Transl Med2021
34177764Paroxysmal Movement Disorders.Front Neurol2021
34358531Why exclude children with Shiga toxin genotype 1 alone from hemolytic uremic syndrome screening?J Pediatr2021
33280099FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.Epilepsia2021
33097487Should levetiracetam rather than phenobarbitone be the first-line treatment for neonatal seizures?Arch Dis Child2021
33174462A Case of Visual Hallucinations in an Adolescent Girl With Cortical Visual Impairment: Seeing but Not Believing.Clin Pediatr (Phila)2021
32709686Psychiatric comorbidity is common in dystonia and other movement disorders.Arch Dis Child2021
32540721Generation of three induced pluripotent stem cell (iPSC) lines from a patient with developmental epileptic encephalopathy due to the pathogenic KCNA2 variant c.869T&gt;G; p.Leu290Arg (NUIGi052-A, NUIGi052-B, NUIGi052-C).Stem Cell Res2020
32088416Expansion of the phenotype of biallelic variants in TRIT1.Eur J Med Genet2020
31932120Genetic potassium channel-associated epilepsies: Clinical review of the K<sub>v</sub> family.Eur J Paediatr Neurol2020
31924505The phenotypic spectrum of SCN2A-related epilepsy.Eur J Paediatr Neurol2020
33150406KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.Brain2020
32808683Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.Ann Neurol2020
32966588Novel ocular findings and progressive intracranial calcification in a case of Revesz syndrome.Br J Haematol2020
32522528Tick-Tock on the Ward: Essential Palatal Tremor in a Pediatric Patient.J Pediatr2020
32518141Disappearing act: COVID-19 and paediatric emergency department attendances.Arch Dis Child2020
31106652<i>FARS2</i> Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum.J Child Neurol2019
30031152NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.Eur J Med Genet2019
31341706Remote poststroke headache in children: Characteristics and association with stroke recurrence.Neurol Clin Pract2019
31160121A Quiver of the Chin.Pediatr Neurol2019
30982612Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.Am J Hum Genet2019
31003879"No-No" Head Tremor-A Nod to the Diagnosis.Pediatr Neurol2019
29289525Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B.Eur J Paediatr Neurol2018
30133899Identification of Leptomeningeal Medulloblastoma with Contrast-Enhanced Magnetic Resonance Imaging: A Devastating Differential of Acute Disseminated Encephomyelitis.J Paediatr Child Health2018
29475639Neonatal SIRPIDs, a Confusing EEG Finding.Pediatr Neurol2018
29552364Clinical Relapses of Atypical HUS on Eculizumab: Clinical Gap for Monitoring and Individualised Therapy.Case Rep Nephrol2018
29778428Status dystonicus due to missense variant in ARX: Diagnosis and management.Eur J Paediatr Neurol2018
29358271Catalogue of inherited disorders found among the Irish Traveller population.J Med Genet2018
28939639Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?Arch Dis Child2018
28063749Symmetrical thalamic calcification: A trio whole exome sequencing negative series.Brain Dev2017
28389061Mitochondrial diagnosis revisited.Eur J Paediatr Neurol2017
29203537Teaching Video Neuro<i>Images</i>: Epilepsia partialis continua in an adolescent with preexisting focal epilepsy.Neurology2017
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Collaborators

Sally Ann Lynch
University College Dublin
Co-authored papers 8
Frances Lucy Raymond
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 4
Michael Farrell
Co-authored papers 3
Sanjay M Sisodiya
UCL Institute of Neurology
Co-authored papers 3
Ingrid E Scheffer
Co-authored papers 3
Michael A Simpson
King's College London
Co-authored papers 2
Detelina Grozeva
Co-authored papers 2
Ariane Soldatos
National Institute of Neurological Disorders and Stroke
Co-authored papers 2
David R FitzPatrick
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 2
Maya Topf
Leibniz-Institut fur Virologie (LIV)
Co-authored papers 2
M Wainwright
Seattle Children's Hospital, University of Washington
Co-authored papers 2
Maria Stack
Children's Hospital Ireland at Temple Street
Co-authored papers 2
Outi Kuismin
Co-authored papers 1
Eric W Klee
Mayo Clinic College of Medicine and Science
Co-authored papers 1
Jennifer Friedman
University of California, Rady Children's Hospital San Diego
Co-authored papers 1
Camilo Toro
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 1
Carolyn D Applegate
Johns Hopkins University School of Medicine
Co-authored papers 1
Adele Schneider
Co-authored papers 1
Nardo Nardocci
Co-authored papers 1
Luis Rohena
Co-authored papers 1
Kathleen A Williamson
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 1
Timothy Feyma
200 University Ave E
Co-authored papers 1
Laila Selim
Cairo University
Co-authored papers 1
Leon G Epstein
Ann & Robert H. Lurie Children's Hospital of Chicago
Co-authored papers 1
Marketa Vlckova
Motol University Hospital and Second Faculty of Medicine, Charles University
Co-authored papers 1
Fiona Stewart
Belfast City Hospital
Co-authored papers 1
Suh Young Jeong
Co-authored papers 1
Susan J Hayflick
Co-authored papers 1
Andrew A M Morris
Alder Hey Children's NHS Foundation Trust
Co-authored papers 1
Norman Delanty
FutureNeuro SFI Research Centre, The Royal College of Surgeons in Ireland
Co-authored papers 1
Release 1.2