Associated Papers
Genetics of catatonia: a systematic review of case reports and a gene pathway analysis.
Moyal M et al.
European Psychiatry : the Journal of the Association of European Psychiatrists, 2025
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder.
Granata P et al.
Bmc Genomics, 2024
39654053 (PubMed )
Supplement: 12864_2024_11077_MOESM1_ESM.pdf
Catatonia responsive to corticosteroids in a patient with an SCN2A variant.
Senko K et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2024
Clinical characteristics and genetic analysis of pediatric patients with sodium channel gene mutation-related childhood epilepsy: a review of 94 patients.
Fang H et al.
Frontiers in Neurology, 2023
Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures.
Yang H et al.
Scientific Reports, 2022
SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis.
Zeng Q et al.
Frontiers in Molecular Neuroscience, 2022
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.
Crawford K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33731876 (PubMed )
Supplement: 41436_2021_1120_MOESM1_ESM.pdf
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
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.
Jang SS et al.
Frontiers in Neurology, 2019
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