Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature.

Brain / diagnostic imaging Brain Diseases / diagnostic imaging Child Humans Infant Male Mutation Phenotype Vesicular Transport Proteins / genetics

Journal

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

Informations de publication

Date de publication:
12 2020
Historique:
pubmed: 6 5 2020
medline: 21 10 2021
entrez: 6 5 2020
Statut: ppublish

Résumé

Biallelic mutations in the

Identifiants

DOI: 10.1055/s-0040-1710526 PMID: 32369837
pubmed: 32369837
doi: 10.1055/s-0040-1710526
doi:

Substances chimiques

TRAPPC12 protein, human 0
Vesicular Transport Proteins 0

Types de publication

Case Reports Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

430-434

Informations de copyright

Thieme. All rights reserved.

Déclaration de conflit d'intérêts

None declared.

Auteurs

Ayca Dilruba Aslanger (AD)

Department of Medical Genetics, Faculty of Medicine, Bezmialem Vakıf University, Istanbul, Turkey.
ORCID: 0000-0003-1770-1762

Emine Demiral (E)

Department of Medical Genetics, Istanbul Training and Research Hospital, Istanbul, Turkey.

Seyma Sonmez-Sahin (S)

Department of Pediatric Neurology, Faculty of Medicine, Bezmialem Vakıf University, Istanbul, Turkey.

Serhat Guler (S)

Department of Pediatric Neurology, Cerrahpasa Faculty of Medicine Hospital, Istanbul University, Istanbul, Turkey.

Beyza Goncu (B)

Experimental Research Center, Bezmialem Vakıf University, Istanbul, Turkey.

Emrah Yucesan (E)

Institute of Life Sciences and Biotechnology, Bezmialem Vakıf University, Istanbul, Turkey.

Akın Iscan (A)

Department of Pediatric Neurology, Faculty of Medicine, Bezmialem Vakıf University, Istanbul, Turkey.

Sema Saltik (S)

Department of Pediatric Neurology, Cerrahpasa Faculty of Medicine Hospital, Istanbul University, Istanbul, Turkey.

Gozde Yesil (G)

Department of Medical Genetics, Faculty of Medicine, Bezmialem Vakıf University, Istanbul, Turkey.

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Classifications MeSH

questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Expanding Clinical Phenotype of...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Expanding Clinical Phenotype of...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Expanding Clinical Phenotype of...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Expanding Clinical Phenotype of...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Expanding Clinical Phenotype of...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Expanding Clinical Phenotype of...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Expanding Clinical Phenotype of...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines du transport vésiculaire › Expanding Clinical Phenotype of...