Ontology highlight
ABSTRACT:
SUBMITTER: Takeshita Y
PROVIDER: S-EPMC7109071 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Takeshita Yohei Y Ohto Tatsuyuki T Enokizono Takashi T Tanaka Mai M Suzuki Hisato H Fukushima Hiroko H Uehara Tomoko T Takenouchi Toshiki T Kosaki Kenjiro K Takada Hidetoshi H
Human genome variation 20200331
We report a 7-year-old boy with infantile spasms caused by a novel mutation in the <i>Aristaless-related homeobox</i> (<i>ARX</i>) 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 ...[more]