Novel ARX mutation identified in infantile spasm syndrome patient

We report a 7-year-old boy with infantile spasms caused by a novel mutation in the Aristaless-related homeobox (ARX) gene. He showed infantile spasms and hypsarrhythmia on electroencephalogram from early infancy. Brain MRI did not reveal severe malformation of the brain except mild hypoplasia of the...

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Enregistré dans:
Détails bibliographiques
Publié dans:Hum Genome Var
Auteurs principaux: Takeshita, Yohei, Ohto, Tatsuyuki, Enokizono, Takashi, Tanaka, Mai, Suzuki, Hisato, Fukushima, Hiroko, Uehara, Tomoko, Takenouchi, Toshiki, Kosaki, Kenjiro, Takada, Hidetoshi
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group UK 2020
Sujets:
Data Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7109071/
https://ncbi.nlm.nih.gov/pubmed/32257294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-0094-2
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