AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings

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Veröffentlicht in:Frontiers in Neurology Jg. 15
Hauptverfasser: Vanessa I. Romero, Samantha Sáenz, Benjamín Arias-Almeida, Daniela DiCapua, Kazuyoshi Hosomichi
Format: Journal Article
Sprache:Japanisch
Veröffentlicht: Frontiers Media SA 15.04.2024
Schlagworte:
AARS
Biochemistry, Genetics and Molecular Biology
Bioinformatics
Biology
CACNA1A
case review
Epilepsy
epileptic encephalopathy
epitranscriptome
Exome sequencing
FOS: Biological sciences
FOS: Computer and information sciences
Gene
Genetic testing
Genetics
Global developmental delay
Idiopathic generalized epilepsy
Internal medicine
Juvenile myoclonic epilepsy
Life Sciences
Medicine
Molecular Biology
Neurology
Neurology. Diseases of the nervous system
Pediatrics
Phenotype
progressive cognitive decline
Psychiatry
RC346-429
Regulation of RNA Processing and Function
Ribosome Structure and Translation Mechanisms
RNA Methylation and Modification in Gene Expression
ISSN:1664-2295
Online-Zugang:Volltext
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ISSN:1664-2295
DOI:10.3389/fneur.2024.1376643