The phenotype caused by recessive variations in SLC25A22: Report of a new case and literature review.

Brain Diseases / diagnosis Child Child, Preschool Developmental Disabilities / diagnosis Electroencephalography Epilepsy / diagnosis Female Genes, Recessive Homozygote Humans Infant Infant, Newborn Mitochondrial Membrane Transport Proteins / genetics Mutation Phenotype
Early developmental and epileptic encephalopathy Myoclonic seizures SLC25A22 Suppression-burst

Journal

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
ISSN: 1769-664X
Titre abrégé: Arch Pediatr
Pays: France
ID NLM: 9421356

Informations de publication

Date de publication:
Jan 2021
Historique:
received: 25 06 2018
revised: 20 07 2020
accepted: 31 10 2020
pubmed: 22 12 2020
medline: 21 10 2021
entrez: 21 12 2020
Statut: ppublish

Résumé

We describe the clinical, electroencephalography (EEG), and developmental features of a patient with developmental and epileptic encephalopathy due to a homozygous pathogenic variation of mitochondrial glutamate/H

Identifiants

DOI: 10.1016/j.arcped.2020.10.015 PMID: 33342683
pubmed: 33342683
pii: S0929-693X(20)30255-4
doi: 10.1016/j.arcped.2020.10.015
pii:
doi:

Substances chimiques

Mitochondrial Membrane Transport Proteins 0
SLC25A22 protein, human 0

Types de publication

Case Reports Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

87-92

Informations de copyright

Copyright © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

Auteurs

M-V André (MV)

Department of pediatric neurology, hôpital de la Timone, AP-HM, 13085 Marseille, France. Electronic address: mvcanavese@outlook.com.

P Cacciagli (P)

Inserm, GMGF, UMR_S 910, faculté de médecine, Aix-Marseille university, 13085 Marseille, France; Department of medical genetics, hôpital de La Timone, AP-HM, 13085 Marseille, France.

A Cano (A)

Department of pediatric neurology, hôpital de la Timone, AP-HM, 13085 Marseille, France.

L Vaugier (L)

Department of clinical neurophysiology, hôpital de la Timone, AP-HM, 13085 Marseille, France.

M Roussel (M)

Department of clinical neurophysiologie, hôpital Nord, AP-HM, 13015 Marseille, France.

N Girard (N)

Department of Neuroradiology, Aix-Marseille University, AP-HM, 13085 Marseille, France.

B Chabrol (B)

Department of pediatric neurology, hôpital de la Timone, AP-HM, 13085 Marseille, France.

L Villard (L)

Inserm, GMGF, UMR_S 910, faculté de médecine, Aix-Marseille university, 13085 Marseille, France; Department of medical genetics, hôpital de La Timone, AP-HM, 13085 Marseille, France.

M Milh (M)

Department of pediatric neurology, hôpital de la Timone, AP-HM, 13085 Marseille, France; Inserm, GMGF, UMR_S 910, faculté de médecine, Aix-Marseille university, 13085 Marseille, France.

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Classifications MeSH

questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › The phenotype caused by recessive variations...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › The phenotype caused by recessive variations...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › The phenotype caused by recessive variations...
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Incapacités de développement › The phenotype caused by recessive variations...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Électrodiagnostic › Électroencéphalographie › The phenotype caused by recessive variations...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › The phenotype caused by recessive variations...
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Gènes récessifs › The phenotype caused by recessive variations...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Homozygote › The phenotype caused by recessive variations...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The phenotype caused by recessive variations...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › The phenotype caused by recessive variations...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › The phenotype caused by recessive variations...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines mitochondriales › Protéines de transport de la membrane mitochondriale › The phenotype caused by recessive variations...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › The phenotype caused by recessive variations...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › The phenotype caused by recessive variations...