EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome.

Agenesis of Corpus Callosum / diagnostic imaging Autophagy-Related Proteins / genetics Cataract / diagnostic imaging Child, Preschool Corpus Callosum / diagnostic imaging Humans Magnetic Resonance Imaging Male Mutation Phenotype Severity of Illness Index Vesicular Transport Proteins / genetics

Journal

Neuropediatrics
ISSN: 1439-1899
Titre abrégé: Neuropediatrics
Pays: Germany
ID NLM: 8101187

Informations de publication

Date de publication:
08 2019
Historique:
pubmed: 22 6 2019
medline: 4 6 2020
entrez: 22 6 2019
Statut: ppublish

Résumé

Congenital disorders of autophagy are multisystem disorders with significant neurological involvement. Ectopic p-granules protein 5 (

Identifiants

DOI: 10.1055/s-0039-1692129 PMID: 31226715
pubmed: 31226715
doi: 10.1055/s-0039-1692129
doi:

Substances chimiques

Autophagy-Related Proteins 0
EPG5 protein, human 0
Vesicular Transport Proteins 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

257-261

Informations de copyright

Georg Thieme Verlag KG Stuttgart · New York.

Déclaration de conflit d'intérêts

None declared.

Auteurs

Megan S Kane (MS)

Inova Translational Medicine Institute, Inova Health System, Fairfax, Virginia, United States.

Jia Zhao (J)

Inova Translational Medicine Institute, Inova Health System, Fairfax, Virginia, United States.

Julie Muskett (J)

Inova Translational Medicine Institute, Inova Health System, Fairfax, Virginia, United States.

Amelia Diplock (A)

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States.

Siddharth Srivastava (S)

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States.

Natalie Hauser (N)

Inova Translational Medicine Institute, Inova Health System, Fairfax, Virginia, United States.

John F Deeken (JF)

Inova Schar Cancer Institute, Inova Health System, Fairfax, Virginia, United States.
Department of Medicine, Virginia Commonwealth University School of Medicine, Richmond, Virginia, United States.

John E Niederhuber (JE)

Inova Translational Medicine Institute, Inova Health System, Fairfax, Virginia, United States.
Genomics and Bioinformatics Research Institute, Fairfax, Virginia, United States.
Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States.
Department of Public Health Sciences, School of Medicine, University of Virginia, Charlottesville, Virginia, United States.

Wendy E Smith (WE)

Department of Pediatrics, The Barbara Bush Children's Hospital, Main Medical Center, Portland, Maine, United States.

Thierry Vilboux (T)

Inova Translational Medicine Institute, Inova Health System, Fairfax, Virginia, United States.

Darius Ebrahimi-Fakhari (D)

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States.
ORCID: 0000-0002-0026-4714

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Classifications MeSH

questionsmedicales.fr › États, signes et symptômes pathologiques › États anatomopathologiques › Agénésie du corps calleux › EPG5 Variants with Modest Functional Impact...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines associées à l'autophagie › EPG5 Variants with Modest Functional Impact...
questionsmedicales.fr › Maladies de l'oeil › Maladies du cristallin › Cataracte › EPG5 Variants with Modest Functional Impact...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › EPG5 Variants with Modest Functional Impact...
questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Prosencéphale › Télencéphale › Commissures du télencéphale › Corps calleux › EPG5 Variants with Modest Functional Impact...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › EPG5 Variants with Modest Functional Impact...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Tomographie › Imagerie par résonance magnétique › EPG5 Variants with Modest Functional Impact...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › EPG5 Variants with Modest Functional Impact...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › EPG5 Variants with Modest Functional Impact...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Enquêtes et questionnaires › Enquêtes de santé › Indicateurs d'état de santé › Acuité des besoins du patient › Indice de gravité de la maladie › EPG5 Variants with Modest Functional Impact...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines du transport vésiculaire › EPG5 Variants with Modest Functional Impact...