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

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


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.

Original languageEnglish
Article number9
JournalHuman Genome Variation
Issue number1
Publication statusPublished - 2020 Dec 1

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics


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