New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel
CACNA1C
CaV1.2
autism
dental enamel defect
short QT syndrome
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:
15 Nov 2020
15 Nov 2020
Historique:
received:
20
09
2020
revised:
04
11
2020
accepted:
07
11
2020
entrez:
18
11
2020
pubmed:
19
11
2020
medline:
6
3
2021
Statut:
epublish
Résumé
Complex neuropsychiatric-cardiac syndromes can be genetically determined. For the first time, the authors present a syndromal form of short QT syndrome in a 34-year-old German male patient with extracardiac features with predominant psychiatric manifestation, namely a severe form of secondary high-functioning autism spectrum disorder (ASD), along with affective and psychotic exacerbations, and severe dental enamel defects (with rapid wearing off his teeth) due to a heterozygous loss-of-function mutation in the
Identifiants
pubmed: 33203140
pii: ijms21228611
doi: 10.3390/ijms21228611
pmc: PMC7696251
pii:
doi:
Substances chimiques
CACNA1C protein, human
0
Calcium Channels, L-Type
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Funding:
ID : The article processing charge was funded by the Baden-Wuerttemberg Ministry of Science, Research and Art and the University of Freiburg in the funding programme Open Access Publishing.
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