Novel ARX mutation identified in infantile spasm syndrome patient

Yohei Takeshita, Tatsuyuki Ohto, Takashi Enokizono, Mai Tanaka, Hisato Suzuki, Hiroko Fukushima, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Hidetoshi Takada

研究成果: Article査読


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.

ジャーナルHuman Genome Variation
出版ステータスPublished - 2020 12 1

ASJC Scopus subject areas

  • 生化学
  • 分子生物学
  • 遺伝学


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