Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood

Alternative hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder with an extensive phenotypic variability, resulting in a challenging clinical diagnosis. About 75% of AHC cases are caused by pathogenic variants mapping in the ATP1A3, ATP1A2 or GLUT1 gene, leaving many AHC patients cli...

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Vydáno v:Mol Genet Metab Rep
Hlavní autoři: Gropman, Andrea, Uittenbogaard, Martine, Brantner, Christine A., Wang, Yue, Wong, Lee-Jun, Chiaramello, Anne
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2020
Témata:
Research Paper
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7262444/
https://ncbi.nlm.nih.gov/pubmed/32489883
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100609
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