Pathogenic Variants in
Adolescent
Adult
Child
Female
Forkhead Transcription Factors
/ genetics
High-Throughput Nucleotide Sequencing
Humans
Intellectual Disability
/ genetics
Methyl-CpG-Binding Protein 2
/ genetics
Munc18 Proteins
/ genetics
Mutation
Nerve Tissue Proteins
/ genetics
Phenotype
Protein Serine-Threonine Kinases
/ genetics
Receptors, GABA
/ genetics
Receptors, GABA-A
/ genetics
Rett Syndrome
/ genetics
Exome Sequencing
Young Adult
GABAa receptors genes
NGS
STXBP1
atypical RTT
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:
24 Jul 2019
24 Jul 2019
Historique:
received:
27
06
2019
revised:
16
07
2019
accepted:
19
07
2019
entrez:
27
7
2019
pubmed:
28
7
2019
medline:
28
12
2019
Statut:
epublish
Résumé
Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia are recurrent features. Stringent diagnostic criteria distinguish classical Rett, caused by a
Identifiants
pubmed: 31344879
pii: ijms20153621
doi: 10.3390/ijms20153621
pmc: PMC6696386
pii:
doi:
Substances chimiques
FOXG1 protein, human
0
Forkhead Transcription Factors
0
GABRB2 protein, human
0
MECP2 protein, human
0
Methyl-CpG-Binding Protein 2
0
Munc18 Proteins
0
Nerve Tissue Proteins
0
Receptors, GABA
0
Receptors, GABA-A
0
STXBP1 protein, human
0
Protein Serine-Threonine Kinases
EC 2.7.11.1
CDKL5 protein, human
EC 2.7.11.22
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Ministero della Salute
ID : 08C208
Organisme : Ministero della Salute
ID : 08C305
Organisme : Associazione Italiana Rett
ID : National Grant 2012
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