Associated Papers
Targeted gene panel testing in pediatric epilepsy: Diagnostic outcomes and expanding genetic insights.
Sanri A et al.
Brain & Development, 2026
Hyperekplexia: A Single-Center Experience.
Dolu MH et al.
Journal of Child Neurology, 2024
Four Turkish families with hyperekplexia: A missense mutation and the exon 1-7 deletion in the GLRA1 gene.
Tezen D et al.
Parkinsonism & Related Disorders, 2022
Excessive Startle with Novel GLRA1 Mutations in 4 Chinese Patients and a Literature Review of GLRA1-Related Hyperekplexia.
Zhan F et al.
Journal of Clinical Neurology (seoul, Korea), 2020
Recessive gene disruptions in autism spectrum disorder.
Doan RN et al.
Nature Genetics, 2019
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