Mary D King

Mary D King

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Mary D King

Mary D King

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

Pediatr Neurol 2019 Nov 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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https://linkinghub.elsevier.com/retrieve/pii/S08878994193002
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http://dx.doi.org/10.1016/j.pediatrneurol.2019.03.007DOI Listing
November 2019

A Quiver of the Chin.

Pediatr Neurol 2019 Oct 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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http://dx.doi.org/10.1016/j.pediatrneurol.2019.04.022DOI Listing
October 2019

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

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

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

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http://dx.doi.org/10.1177/0883073819846805DOI Listing
September 2019

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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https://linkinghub.elsevier.com/retrieve/pii/S17697212183007
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http://dx.doi.org/10.1016/j.ejmg.2018.07.015DOI Listing
March 2019

Hearing impairment and hypoxia ischaemic encephalopathy: Incidence and associated factors.

Eur J Paediatr Neurol 2019 Jan 10;23(1):81-86. Epub 2018 Oct 10.

Neonatal Department, Rotunda Hospital, Dublin 1, Ireland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798183012
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http://dx.doi.org/10.1016/j.ejpn.2018.10.002DOI Listing
January 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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https://linkinghub.elsevier.com/retrieve/pii/S10903798173199
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http://dx.doi.org/10.1016/j.ejpn.2018.04.015DOI Listing
September 2018

Dramatic Improvement of a Rare Syndrome With High Dose Riboflavin Treatment.

Pediatr Neurol 2018 09 1;86:77-78. Epub 2018 Jun 1.

Department of Neurology and Neurophysiology, Temple Street Children's University Hospital, Temple Street, Dublin 1, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science,University College Dublin, Ireland.

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.05.005DOI Listing
September 2018

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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http://dx.doi.org/10.1111/jpc.14094DOI Listing
August 2018

Cost of exome sequencing in epileptic encephalopathy: is it 'worth it'?

Arch Dis Child 2018 Mar 22;103(3):304. Epub 2017 Sep 22.

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

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http://dx.doi.org/10.1136/archdischild-2017-313240DOI Listing
March 2018

The Temple Star Transitional Model of Care for epilepsy; the outcome of a quality improvement project.

Epilepsy Behav 2018 02 7;79:4-8. Epub 2017 Dec 7.

Neurology Department, Temple Street Children's University Hospital, Temple Street, Dublin 1, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.

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http://dx.doi.org/10.1016/j.yebeh.2017.10.043DOI Listing
February 2018

Neurodevelopmental outcome in survivors of hypoxic ischemic encephalopathy without cerebral palsy.

Eur J Pediatr 2018 Jan 24;177(1):19-32. Epub 2017 Oct 24.

The Children's University Hospital, Temple St, Dublin 1, Ireland.

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http://dx.doi.org/10.1007/s00431-017-3028-3DOI Listing
January 2018

Interferonopathies in laboratory-negative suspected congenital infection.

Lancet Infect Dis 2018 01 20;18(1):27. Epub 2017 Dec 20.

Department of Paediatrics, National University of Ireland, Galway, Ireland; Department of Paediatrics, University Hospital Galway, Galway, Ireland.

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http://dx.doi.org/10.1016/S1473-3099(17)30700-4DOI Listing
January 2018

Status dystonicus in childhood.

Curr Opin Pediatr 2017 Dec;29(6):674-682

aComplex Motor Disorder Service, Paediatric Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, Westminister Bridge Road, London, United Kingdom bDepartment of Paediatric Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital cAcademic Centre on Rare Diseases, University College, Dublin dDepartment of Paediatrics, National University of Ireland Galway eGalway University Hospital, Galway, Ireland.

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http://dx.doi.org/10.1097/MOP.0000000000000556DOI Listing
December 2017

Teaching Video Neuro: Epilepsia partialis continua in an adolescent with preexisting focal epilepsy.

Neurology 2017 12;89(23):e274-e275

From the Department of Neurology and Clinical Neurophysiology (N.C.L., K.M.G., A.S., M.D.K.), Children's University Hospital; and Academic Centre on Rare Diseases (M.D.K.), School of Medicine and Medical Science, University College Dublin, Ireland.

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http://dx.doi.org/10.1212/WNL.0000000000004713DOI Listing
December 2017

Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype.

Epilepsia 2017 07;58(7):1301-1302

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

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http://dx.doi.org/10.1111/epi.13794DOI Listing
July 2017

Possible toxicity following embolization of congenital giant vertex hemangioma: case report.

J Neurosurg Pediatr 2017 Mar 9;19(3):296-299. Epub 2016 Dec 9.

Departments of 1 Plastic and Craniofacial Surgery.

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http://dx.doi.org/10.3171/2016.5.PEDS13345DOI Listing
March 2017

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Am J Hum Genet 2017 Jan 23;100(1):138-150. Epub 2016 Dec 23.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Windmill Road, Headington, Oxford OX3 7HE, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223060PMC
January 2017

Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.

Am J Med Genet A 2016 Nov 18;170(11):3048-3050. Epub 2016 Jul 18.

Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.37849DOI Listing
November 2016

Anti-N-Methyl-D-Aspartate Receptor Antibody Mediated Neurologic Relapse Post Herpes Simplex Encephalitis: A Case Series.

Pediatr Infect Dis J 2016 08;35(8):e258-61

From the *Departments of Paediatric Infectious Disease and Immunology, †Paediatric Neurology and ‡Paediatric Radiology, Children's University Hospital Temple Street, Dublin, Ireland; §Departments of Paediatric Infectious Disease and Immunology and ¶Paediatric Neurology, Our Lady's Children's Hospital Crumlin, Dublin, Ireland; and ‖Department of Pediatrics, School of Medicine and Medical Sciences University College Dublin, Dublin, Ireland.

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http://dx.doi.org/10.1097/INF.0000000000001205DOI Listing
August 2016

Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.

J Hum Genet 2016 Aug 19;61(8):761-4. Epub 2016 May 19.

Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.

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http://dx.doi.org/10.1038/jhg.2016.44DOI Listing
August 2016

Atypical benign partial epilepsy of childhood with acquired neurocognitive, lexical semantic, and autistic spectrum disorder.

Epilepsy Behav Case Rep 2016 23;6:42-8. Epub 2016 Apr 23.

Department of Paediatric Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Ireland.

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http://dx.doi.org/10.1016/j.ebcr.2016.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4969243PMC
August 2016

Epilepsy surgery in pediatric epileptic encephalopathy: when interictal EEG counts the most.

Childs Nerv Syst 2016 Jul 14;32(7):1293-8. Epub 2016 May 14.

National Neurosurgical Department, Beaumont Hospital, Dublin 9, Ireland.

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http://dx.doi.org/10.1007/s00381-016-3104-4DOI Listing
July 2016

Footloose: Spinal Myoclonus after Myelomeningocele Repair.

J Pediatr 2016 06 9;173:261-261.e1. Epub 2016 Mar 9.

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

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http://dx.doi.org/10.1016/j.jpeds.2016.02.032DOI Listing
June 2016

Brain magnetic resonance imaging and outcome after hypoxic ischaemic encephalopathy.

J Matern Fetal Neonatal Med 2016 Mar 4;29(5):777-82. Epub 2015 Sep 4.

b The Children's University Hospital , Dublin , Ireland , and.

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http://dx.doi.org/10.3109/14767058.2015.1018167DOI Listing
March 2016

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.

Epilepsia 2016 Jan 9;57(1):e12-7. Epub 2015 Dec 9.

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

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http://dx.doi.org/10.1111/epi.13250DOI Listing
January 2016

Sydenham's chorea: not gone but perhaps forgotten.

Arch Dis Child 2015 Dec 15;100(12):1160-2. Epub 2015 Sep 15.

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

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http://dx.doi.org/10.1136/archdischild-2015-308693DOI Listing
December 2015

Clinical Reasoning: Juvenile neurocognitive decline: A "snaky" diagnosis.

Neurology 2015 Dec;85(22):e170-4

From the Department of Child Neurology & Clinical Neurophysiology (N.M.A., A.S., C.M., T.N., M.D.K.), Children's University Hospital, Dublin; and Academic Centre on Rare Diseases (M.D.K.), School of Medicine and Medical Science, University College Dublin, Ireland.

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http://dx.doi.org/10.1212/WNL.0000000000002180DOI Listing
December 2015

Chromosomal microarray in unexplained severe early onset epilepsy - A single centre cohort.

Eur J Paediatr Neurol 2015 Jul 10;19(4):390-4. Epub 2015 Apr 10.

Department of Child Neurology & Clinical Neurophysiology, 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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http://dx.doi.org/10.1016/j.ejpn.2015.03.010DOI Listing
July 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.

J Neurol 2014 Dec 11;261(12):2296-304. Epub 2014 Sep 11.

MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Hadyn Ellis Building, Maindy Road, Cardiff, CF24 4HQ, UK,

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http://dx.doi.org/10.1007/s00415-014-7488-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495322PMC
December 2014

The variable phenotypes of KCNQ-related epilepsy.

Epilepsia 2014 Sep 22;55(9):e99-105. Epub 2014 Jul 22.

Department of Paediatric Neurology & Clinical Neurophysiology, Children's University Hospital, Dublin, Ireland.

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http://dx.doi.org/10.1111/epi.12715DOI Listing
September 2014

Does early treatment improve outcomes in N-methyl-D-aspartate receptor encephalitis?

Dev Med Child Neurol 2014 Aug 19;56(8):794-6. Epub 2014 Mar 19.

Children's University Hospital, Dublin, Ireland; Our Lady's Children's Hospital, Dublin, Ireland.

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http://doi.wiley.com/10.1111/dmcn.12411
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http://dx.doi.org/10.1111/dmcn.12411DOI Listing
August 2014

Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.

Dev Med Child Neurol 2014 Jul 31;56(7):642-8. Epub 2013 Oct 31.

MRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine & Clinical Neurosciences, Cardiff University, Cardiff, UK.

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http://dx.doi.org/10.1111/dmcn.12323DOI Listing
July 2014

Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms--a further patient.

Am J Med Genet A 2014 Jul 3;164A(7):1863-6. Epub 2014 Apr 3.

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

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http://dx.doi.org/10.1002/ajmg.a.36532DOI Listing
July 2014

Towards the identification of a genetic basis for Landau-Kleffner syndrome.

Epilepsia 2014 Jun 14;55(6):858-65. Epub 2014 May 14.

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

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http://dx.doi.org/10.1111/epi.12645DOI Listing
June 2014

Explosive onset non-epileptic jerks and profound hypotonia in an infant with Alpers-Huttenlocher syndrome.

Seizure 2014 Mar 27;23(3):237-9. Epub 2013 Jul 27.

Department of Pediatric Neurology and Clinical Neurophysiology, Children's University Hospital, Temple Street, Dublin 1, Ireland.

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http://dx.doi.org/10.1016/j.seizure.2013.07.005DOI Listing
March 2014

Status dystonicus: a practice guide.

Dev Med Child Neurol 2014 Feb 4;56(2):105-12. Epub 2013 Dec 4.

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

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http://doi.wiley.com/10.1111/dmcn.12339
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http://dx.doi.org/10.1111/dmcn.12339DOI Listing
February 2014

A case-control study of hypoxic-ischemic encephalopathy in newborn infants at >36 weeks gestation.

Am J Obstet Gynecol 2013 Jul 21;209(1):29.e1-29.e19. Epub 2013 Mar 21.

Rotunda Hospital, Dublin, Ireland. Electronic address:

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http://dx.doi.org/10.1016/j.ajog.2013.03.023DOI Listing
July 2013

Acquired auditory agnosia in childhood and normal sleep electroencephalography subsequently diagnosed as Landau-Kleffner syndrome: a report of three cases.

Dev Med Child Neurol 2013 Jun 4;55(6):575-9. Epub 2012 Nov 4.

Department of Paediatric Neurology, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1111/dmcn.12025DOI Listing
June 2013

Idiopathic intracranial hypertension associated with iron-deficiency anaemia.

Arch Dis Child 2013 Jun 14;98(6):418. Epub 2013 Feb 14.

Department of Neurology, Children's University Hospital, Temple Street, Dublin 1, Ireland.

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http://adc.bmj.com/cgi/doi/10.1136/archdischild-2012-303543
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http://dx.doi.org/10.1136/archdischild-2012-303543DOI Listing
June 2013

Not all twitching is epileptic! Hand myoclonus in a boy with spinal cord tumor.

J Pediatr 2013 Feb 12;162(2):431-431.e1. Epub 2012 Sep 12.

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

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https://linkinghub.elsevier.com/retrieve/pii/S00223476120088
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http://dx.doi.org/10.1016/j.jpeds.2012.07.062DOI Listing
February 2013

Excessive blinking and ataxia in a child with occult neuroblastoma and voltage-gated potassium channel antibodies.

Pediatrics 2012 May 23;129(5):e1348-52. Epub 2012 Apr 23.

Department of Pediatric Neurology, Children's University Hospital, Dublin 1, Ireland.

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http://dx.doi.org/10.1542/peds.2011-2690DOI Listing
May 2012

Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding.

Clin Dysmorphol 2012 Apr;21(2):91-2

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

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http://dx.doi.org/10.1097/MCD.0b013e328351639dDOI Listing
April 2012

"Stiff neonate" with mitochondrial DNA depletion and secondary neurotransmitter defects.

Pediatr Neurol 2011 Dec;45(6):403-5

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

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http://dx.doi.org/10.1016/j.pediatrneurol.2011.08.009DOI Listing
December 2011

Leukoencephalopathy with anterior temporal cysts due to congenital CMV infection diagnosed retrospectively.

J Neuroimaging 2010 Jul 22;20(3):292-3. Epub 2008 Sep 22.

Department of Pediatric Neurology, Children's University Hospital, Dublin 1, Ireland.

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http://dx.doi.org/10.1111/j.1552-6569.2008.00301.xDOI Listing
July 2010

Head bobbing due to succinic semialdehyde dehydrogenase deficiency.

Neurology 2010 Jun;74(24):2025

Department of Neurology, Children's University Hospital, Dublin 1, Ireland.

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http://dx.doi.org/10.1212/WNL.0b013e3181e398cfDOI Listing
June 2010

Severe childhood encephalopathy with dyskinesia and prolonged cognitive disturbances: evidence for anti-N-methyl-D-aspartate receptor encephalitis.

Dev Med Child Neurol 2010 May 23;52(5):e78-82. Epub 2009 Dec 23.

Department of Paediatrics, Child Neurology, University Hospital Lausanne, Lausanne, Switzerland.

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http://dx.doi.org/10.1111/j.1469-8749.2009.03542.xDOI Listing
May 2010

Seizure-induced inflammation in focal cortical dysplasia resulting in imaging progression that simulates neoplasia.

J Neuroimaging 2010 Apr 29;20(2):208-10. Epub 2009 Jan 29.

From the Department of Paediatric Neurology, Children's University Hospital, Dublin, Ireland.

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http://doi.wiley.com/10.1111/j.1552-6569.2008.00342.x
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http://dx.doi.org/10.1111/j.1552-6569.2008.00342.xDOI Listing
April 2010

Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.

Dev Med Child Neurol 2009 May;51(5):404-7

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

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http://dx.doi.org/10.1111/j.1469-8749.2008.03227.xDOI Listing
May 2009

"Jerky" dystonia in children: spectrum of phenotypes and genetic testing.

Mov Disord 2009 Apr;24(5):702-9

Department of Neurodegenerative Disease, Hertie-Institute for Clinical Brain Research, Center of Neurology, University of Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1002/mds.22426DOI Listing
April 2009

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

Atypical presentation of ataxia-oculomotor apraxia type 1.

Dev Med Child Neurol 2006 Jun;48(6):529-32

Neurology Department, Royal Children's Hospital, Melbourne, Australia.

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http://dx.doi.org/10.1017/S0012162206001113DOI Listing
June 2006

Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.

Ann Neurol 2005 Aug;58(2):234-41

Genetics Unit, Department of Biochemistry, University of Oxford, Oxford, United Kingdom.

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http://dx.doi.org/10.1002/ana.20550DOI Listing
August 2005

Malignant refractory epilepsy in identical twins mosaic for a supernumerary ring chromosome 19.

Epilepsia 2004 Aug;45(8):997-1000

Department of Paediatric Neurology, The Children's University Hospital, Dublin, Ireland.

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August 2004

Deafness associated with bilateral facial diplegia, ptosis and hypermobile joints--A new autosomal recessive condition?

Am J Med Genet A 2003 Sep;122A(1):84-8

National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1002/ajmg.a.20278DOI Listing
September 2003