CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.

Abnormalities, Multiple / genetics Adolescent Brain / abnormalities Cation Transport Proteins Cyclins / genetics Epilepsy / genetics Homozygote Humans Magnesium Deficiency / congenital Male Mutation, Missense Phenotype
Brain MRI CNNM2 Heterozygous and homozygous mutations Hypomagnesemia Mg(2+)reabsorption Neurological impairment

Journal

European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089

Informations de publication

Date de publication:
Mar 2019
Historique:
received: 18 01 2018
revised: 01 07 2018
accepted: 14 07 2018
pubmed: 22 7 2018
medline: 9 3 2019
entrez: 21 7 2018
Statut: ppublish

Résumé

Magnesium (Mg

Identifiants

DOI: 10.1016/j.ejmg.2018.07.014 PMID: 30026055
pubmed: 30026055
pii: S1769-7212(18)30043-0
doi: 10.1016/j.ejmg.2018.07.014
pii:
doi:

Substances chimiques

CNNM2 protein, human 0
Cation Transport Proteins 0
Cyclins 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

198-203

Informations de copyright

Copyright © 2018 Elsevier Masson SAS. All rights reserved.

Auteurs

Andrea Accogli (A)

UOC Neurochirurgia, Istituto Giannina Gaslini, Genova, Italy; Università degli studi di Genova, Italy.

Marcello Scala (M)

UOC Neurochirurgia, Istituto Giannina Gaslini, Genova, Italy; Università degli studi di Genova, Italy.

Annalisa Calcagno (A)

UOC Clinica Pediatrica, Istituto Giannina Gaslini, Genova, Italy.

Flavia Napoli (F)

UOC Clinica Pediatrica, Istituto Giannina Gaslini, Genova, Italy.

Natascia Di Iorgi (N)

Università degli studi di Genova, Italy; UOC Clinica Pediatrica, Istituto Giannina Gaslini, Genova, Italy.

Serena Arrigo (S)

UOC Gastroenterologia and Endoscopia Pediatrica, Istituto Giannina Gaslini, Genova, Italy.

Maria Margherita Mancardi (MM)

UOC Neuropsichiatria Infantile - Centro Epilessia, Istituto Giannina Gaslini, Genova, Italy.

Giulia Prato (G)

UOC Neuropsichiatria Infantile - Centro Epilessia, Istituto Giannina Gaslini, Genova, Italy.

Livia Pisciotta (L)

Università degli studi di Genova, Italy; UOC Neuropsichiatria Infantile - Centro Epilessia, Istituto Giannina Gaslini, Genova, Italy.

Mato Nagel (M)

Center for Nephrology and Metabolic Disorders, Weisswasser, Germany.

Mariasavina Severino (M)

UOC Neuroradiologia, Istituto Giannina Gaslini, Genova, Italy.

Valeria Capra (V)

UOC Neurochirurgia, Istituto Giannina Gaslini, Genova, Italy. Electronic address: valeriacapra@gaslini.org.

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Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations multiples › CNNM2 homozygous mutations cause severe...
questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › CNNM2 homozygous mutations cause severe...
questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › CNNM2 homozygous mutations cause severe...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Pompes ioniques › Transporteurs de cations › CNNM2 homozygous mutations cause severe...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Cyclines › CNNM2 homozygous mutations cause severe...
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › CNNM2 homozygous mutations cause severe...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Homozygote › CNNM2 homozygous mutations cause severe...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › CNNM2 homozygous mutations cause severe...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Troubles nutritionnels › Malnutrition › Maladies de carence › Magnésium, carence › CNNM2 homozygous mutations cause severe...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › CNNM2 homozygous mutations cause severe...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › CNNM2 homozygous mutations cause severe...