Varaico: Literature-Extracted Genetic Variants

Gene:GAD1
Variant:p.R531*
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GAD1

NM_000817.3:p.R531*

Associated Papers

Genetic Diversity in Early Infantile Epileptic Encephalopathy: A Three-Year Cohort Study.

Torbati PN et al.

Pediatric Neurology, 2026

Developmental and epileptic encephalopathy 89: A novel bi-allelic variant, molecular dynamics simulation, and a comprehensive clinical and molecular profile.

Khorram E et al.

Epilepsia Open, 2023

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.

Neuray C et al.

Brain : a Journal of Neurology, 2020

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.

Chatron N et al.

Brain : a Journal of Neurology, 2020

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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."