Varaico: Literature-Extracted Genetic Variants

Gene:ARX
Variant:p.R330H
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ARX

NM_139058.3:p.R330H

Associated Papers

Type 1 early infantile epileptic encephalopathy: A case report and literature review.

Zaker E et al.

Molecular Genetics & Genomic Medicine, 2024

Generation of an induced pluripotent stem cell line (OGHFUi001-A) from a type 1 early infantile epileptic encephalopathy with ARX mutation.

Jia N et al.

Stem Cell Research, 2021

Association of early-onset epileptic encephalopathy with involuntary movements - Case series and literature review.

Arisaka A et al.

Epilepsy & Behavior Reports, 2021

Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.

Tsang MHY et al.

Human Genomics, 2020

ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV.

Kwong AK et al.

Brain & Development, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."