A New De Novo Missense Variant of the

Humans Female Adult Epilepsy / genetics Mutation, Missense Megalencephaly / genetics Dioxygenases / genetics DNA-Binding Proteins / genetics Exome Sequencing Phenotype
TET3 dysarthria epilepsy macrocephaly

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
06 Sep 2024
Historique:
received: 21 07 2024
revised: 29 08 2024
accepted: 01 09 2024
medline: 14 9 2024
pubmed: 14 9 2024
entrez: 14 9 2024
Statut: epublish

Résumé

The etiology of neurodevelopmental disorders and epilepsy is very heterogeneous and partly still unknown, and the research of causative genes related to these diseases is still in progress. In 2020, pathogenic variants of the

Identifiants

DOI: 10.3390/ijms25179676 PMID: 39273623
pubmed: 39273623
pii: ijms25179676
doi: 10.3390/ijms25179676
pii:
doi:

Substances chimiques

TET3 protein, human EC 1.-
Dioxygenases EC 1.13.11.-
DNA-Binding Proteins 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Auteurs

Miryam Rosa Stella Foti (MRS)

Unità di Genetica Medica, Azienda Ospedaliera Sant'Anna, Dip. Scienze Mediche e Dip. Materno-Infantile, 44121 Ferrara, Italy.
ORCID: 0009-0002-0335-5862

Maria Giovanna Tedesco (MG)

Istituto Malattie Rare "Mauro Baschirotto", Costozza di Longare, 36100 Vicenza, Italy.
UOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy.
ORCID: 0009-0006-4790-6573

Davide Colavito (D)

Research & Innovation (R&I Genetics) Srl, 35100 Padova, Italy.

Daniela Rogaia (D)

UOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy.

Amedea Mencarelli (A)

UOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy.

Monica Schippa (M)

UOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy.

Cristina Gradassi (C)

UOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy.

Rita Romani (R)

UOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy.
Department of Medicine and Surgery, University of Perugia, 06132 Perugia, Italy.
ORCID: 0000-0003-2612-9796

Carmela Ardisia (C)

UOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy.

Paolo Prontera (P)

UOSD Genetica Medica e Malattie Rare, Dip. Materno-Infantile, Azienda Ospedaliera di Perugia, 06129 Perugia, Italy.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A New De Novo Missense Variant of the
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › A New De Novo Missense Variant of the
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › A New De Novo Missense Variant of the
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › A New De Novo Missense Variant of the
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système nerveux › Malformations corticales › Malformations corticales du groupe I › Mégalencéphalie › A New De Novo Missense Variant of the
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Oxidoreductases › Oxygénases › Dioxygenases › A New De Novo Missense Variant of the
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de liaison à l'ADN › A New De Novo Missense Variant of the
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Séquençage de l'exome › A New De Novo Missense Variant of the
questionsmedicales.fr › Phénomènes génétiques › Phénotype › A New De Novo Missense Variant of the