Search Results - "Procopis, Peter"

The spectrum of intermediate SCN8A‐related epilepsy.

Authors: Johannesen, Katrine M. Gardella, Elena Encinas, Alejandra C. et al.

Source: Epilepsia (Series 4). May2019, Vol. 60 Issue 5, p830-844. 15p.

Subjects: Epilepsy, Mild cognitive impairment, Movement disorders, Genetics of epilepsy, Intellectual disabilities

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.

Authors: Bergen, Nicole J Van Guo, Yiran Rankin, Julia et al.

Source: Brain: A Journal of Neurology; Jan2019, Vol. 142 Issue 1, p50-58, 9p

Infectious and Autoantibody-Associated Encephalitis: Clinical Features and Long-term Outcome.

Authors: Pillai, Sekhar C. Hacohen, Yael Tantsis, Esther et al.

Source: Pediatrics. Apr2015, Vol. 135 Issue 4, pe974-e984. 11p.

Subjects: Encephalitis diagnosis, Treatment of encephalitis, Evaluation of medical care, Autoantibodies, Communicable diseases, Interviewing, Long-term health care, Magnetic resonance imaging, Telephones, Time, Retrospective studies

Geographic Terms: Australia

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Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.

Authors: Baker, Peter R. Friederich, Marisa W. Swanson, Michael A. et al.

Source: Brain: A Journal of Neurology; Feb2014, Vol. 137 Issue 2, p366-379, 14p

Autoantibodies to neuronal antigens in children with new-onset seizures classified according to the revised ILAE organization of seizures and epilepsies.

Authors: Suleiman, Jehan Wright, Sukhvir Gill, Deepak et al.

Source: Epilepsia (Series 4). Dec2013, Vol. 54 Issue 12, p2091-2100. 10p.

Subjects: Autoantibodies, Antigens, Seizures in children, Childhood epilepsy, Potassium channels, Age of onset, Glutamate decarboxylase, GABA receptors

Late-Onset Nonketotic Hyperglycinemia With Leukodystrophy and an Unusual Clinical Course

Authors: Chiong, Mary Anne Procopis, Peter Carpenter, Kevin et al.

Source: Pediatric Neurology. Oct2007, Vol. 37 Issue 4, p283-286. 4p.

DHDDS and NUS1: A Converging Pathway and Common Phenotype.

Authors: Williams, Laura J. Waller, Sophie Qiu, Jessica et al.

Source: Movement Disorders Clinical Practice. Jan2024, Vol. 11 Issue 1, p76-85. 10p.

GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.

Authors: Sankaran, Bindu Parayil Gupta, Sachin Tchan, Michel et al.

Source: Orphanet Journal of Rare Diseases. 11/3/2021, Vol. 16 Issue 1, p1-12. 12p.

Examination Paediatrics; A Guide to Paediatric Training.

Authors: Procopis, Peter G.¹

Source: Journal of Paediatrics & Child Health. Apr2007, Vol. 43 Issue 4, p322-322. 1p.

Book Reviews: 4.

Authors: Procopis, Peter¹

Source: Journal of Paediatrics & Child Health. Jan2006, Vol. 42 Issue 1/2, p75-75. 1p.

Magnetic resonance imaging in enterovirus-71, myelin oligodendrocyte glycoprotein antibody, aquaporin-4 antibody, and multiple sclerosis-associated myelitis in children.

Authors: Tantsis, Esther M Prelog, Kristina Alper, Gulay et al.

Source: Developmental Medicine & Child Neurology. Sep2019, Vol. 61 Issue 9, p1108-1116. 9p.

Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome

Authors: Compton, Alison G. Troedson, Christopher Wilson, Meredith et al.

Source: Mitochondrion. Jan2011, Vol. 11 Issue 1, p104-107. 4p.

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.

Authors: Lake NJ Formosa LE Stroud DA et al.

Source: Human mutation [Hum Mutat] 2019 Jul; Vol. 40 (7), pp. 893-898. Date of Electronic Publication: 2019 Apr 13.

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

Authors: Stamberger H Hammer TB Gardella E et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Feb; Vol. 23 (2), pp. 363-373. Date of Electronic Publication: 2020 Nov 04.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Yield of comparative genomic hybridization microarray in pediatric neurology practice.

Authors: Misra S Peters G Barnes E et al.

Source: Neurology. Genetics [Neurol Genet] 2019 Oct 23; Vol. 5 (6), pp. e367. Date of Electronic Publication: 2019 Oct 23 (Print Publication: 2019).

Publication Type: Journal Article

Journal Info: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Authors: Kothur K Holman K Farnsworth E et al.

Source: Seizure [Seizure] 2018 Jul; Vol. 59, pp. 132-140. Date of Electronic Publication: 2018 May 28.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 9306979 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2688 (Electronic) Linking ISSN: 10591311 NLM ISO Abbreviation: Seizure Subsets: MEDLINE

Mild encephalopathy with reversible splenial lesion: an important differential of encephalitis.

Authors: Ka A Britton P Troedson C et al.

Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2015 May; Vol. 19 (3), pp. 377-82. Date of Electronic Publication: 2015 Feb 13.

Publication Type: Journal Article

Journal Info: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

Evidence-based medicine.

Authors: Procopis PG

Source: Developmental medicine and child neurology [Dev Med Child Neurol] 2002 Jul; Vol. 44 (7), pp. 435.

Publication Type: Editorial

Journal Info: Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print Cited Medium: Print ISSN: 0012-1622 (Print) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE