Associated Papers
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
40770811 (PubMed )
Supplement: 13073_2025_1513_MOESM2_ESM.xlsx › ST2
The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients.
Dai L et al.
Brain & Development, 2023
A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia.
Zhang X et al.
Molecular Genetics & Genomic Medicine, 2023
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.
Duan J et al.
Brain : a Journal of Neurology, 2022
35231114 (PubMed )
Supplement: awac053_supplementary_data.zip › brain-2021-02368-File005.pdf
De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene-disease relationship and variant classification: a case report.
Huang D et al.
Bmc Medical Genomics, 2021
Prolonged Hyperperfusion in a Child With ATP1A2 Defect-Related Hemiplegic Migraine.
Cobb-Pitstick K et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2020
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R et al.
Epilepsia Open, 2019
31440721 (PubMed )
Supplement: EPI4-4-397-s003.xlsx › SupplementaryTable2
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