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Published in 2022 at "Expert Review of Clinical Pharmacology"
DOI: 10.1080/17512433.2022.2109463
Abstract: ABSTRACT Introduction Angelman syndrome (AS) is a neurogenetic disorder due to deficient expression of the maternal copy of the UBE3A gene, which encodes ubiquitin ligase E3A protein. Severe developmental delay, seizures and other neurological disorders…
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Keywords:
manifestations angelman;
approach neurological;
neurological manifestations;
therapeutic approach ... See more keywords
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Published in 2021 at "Life"
DOI: 10.3390/life11111244
Abstract: Ion channel disorders (channelopathies) can affect any organ system in newborns before 2 months of life, including the skeletal muscle and central nervous system. Channelopathies in newborns can manifest as seizure disorders, which is a…
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Keywords:
approach neurological;
channelopathies neurometabolic;
neurological channelopathies;
neurometabolic disorders ... See more keywords