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Novel ARX mutation identified in infantile spasm syndrome patient.


ABSTRACT: 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.

SUBMITTER: Takeshita Y 

PROVIDER: S-EPMC7109071 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Novel <i>ARX</i> mutation identified in infantile spasm syndrome patient.

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]

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