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
Transforming refractory epilepsy management: Trio-WES for enhanced genetic diagnosis and prognosis in children.
Chen Y et al.
Seizure, 2025
SPTAN1-Results of a Caregiver Survey.
Wilson M et al.
Journal of Child and Adolescent Psychopharmacology, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
Refining the phenotypic spectrum of CCDC88A-related PEHO-like syndrome.
Issa MY et al.
American Journal of Medical Genetics. Part A, 2024
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
35586607 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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
Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability.
Marco Hernández AV et al.
American Journal of Medical Genetics. Part A, 2022
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
Syrbe S et al.
Brain : a Journal of Neurology, 2017
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
Tohyama J et al.
Journal of Human Genetics, 2015
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
Kodera H et al.
Epilepsia, 2013
Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation.
Nonoda Y et al.
Brain & Development, 2013
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