Associated Papers
Phenotypes of a female patient with novel de novo frameshift ARX variant identified by whole-exome sequencing: a case report.
Iskandar K et al.
Annals of Medicine and Surgery (2012), 2023
Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.
Shoubridge C et al.
American Journal of Medical Genetics. Part A, 2019
An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.
Mattiske T et al.
Human Mutation, 2017
Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.
Kwong AK et al.
Plos One, 2015
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