MUTATIONS IN THE ARX GENE: CLINICAL, ELECTROENCEPHALOGRAPHIC AND NEUROIMAGING FEATURES IN 3 PATIENTS

MUTATIONS IN THE ARX GENE: CLINICAL, ELECTROENCEPHALOGRAPHIC AND NEUROIMAGING FEATURES IN 3 PATIENTS

The Aristaless-related homeobox (ARX) gene is a member of the paired-type homeodomain transcription factor family with critical roles in embryonic development, particularly in the developing brain. Mutations in ARX gene demonstrate striking intra- and interfamilial pleiotropy together with genetic h...

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Bibliographic Details
Main Authors: I. V. Ivanova, K. Yu. Mukhin, O. A. Pylaeva, M. Yu. Bobylova, N. E. Kvaskova, A. S. Petrukhin
Format: Article
Language:Russian
Published: ABV-press 2017-12-01
Series:Russkij Žurnal Detskoj Nevrologii
Subjects:
arx gene
duplication
missense-mutation
epilepsy
intellectual disability
movement disorders
Online Access:https://rjdn.abvpress.ru/jour/article/view/228

Internet

https://rjdn.abvpress.ru/jour/article/view/228

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