Novel ARX mutation identified in infantile spasm syndrome patient

• 大戸, 達之

• 福島, 紘子

• Takeshita, Yohei

• Enokizono, Takashi

• Tanaka, Mai

• Suzuki, Hisato

• Uehara, Tomoko

• Takenouchi, Toshiki

• Kosaki, Kenjiro

• Takada, Hidetoshi

抄録

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 corpus callosum. Two-fold adrenocorticotropic hormone (ACTH) therapy failed to control the seizures, and ketogenic diet therapy and multi-antiepileptic drug therapy were required as he showed intractable daily tonic-clonic seizures. Exome sequencing identified a hemizygous mutation in the ARX gene, NG_008281.1(ARX_v001):c.1448 + 1 G > A, chrX: 25025227 C > T (GRCh37). To our knowledge, this mutation has not been reported previously.

収録刊行物

• Human Genome Variation

  Human Genome Variation 7 9-, 2020-03

  publisher

キーワード

• Genetics
• Molecular Biology
• Biochemistry

詳細情報

• CRID: 1050004225333168640
• NII論文ID: 120007132745
• ISSN: 2054345X
• DOI: 10.1038/s41439-020-0094-2
• HANDLE: 2241/00161392
• Web Site: https://tsukuba.repo.nii.ac.jp/records/55988
• Web Site: https://www.nature.com/articles/s41439-020-0094-2.pdf
• Web Site: https://www.nature.com/articles/s41439-020-0094-2
• 本文言語コード: en
• 資料種別: journal article
• データソース種別:
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