Associated Papers
Case Report: Prenatal imaging and genetic integrated diagnosis of SCN2A encephalopathy-a case of cryptical cortical dysplasia caused by a loss-of-function frameshift genetic variant.
Zhu L et al.
Frontiers in Neuroscience, 2026
Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing.
Hadjipanteli A et al.
Plos One, 2025
Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.
Bhatia S et al.
European Journal of Human Genetics : Ejhg, 2024
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.
Hadjipanteli A et al.
Genes, 2024
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
The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
Burgess R et al.
Annals of Neurology, 2019
Molecular basis for pore blockade of human Na+ channel Nav1.2 by the μ-conotoxin KIIIA.
Pan X et al.
Science (new York, N.y.), 2019
30765605 (PubMed )
Supplement: aaw2999-pan-sm.pdf
Unusual association of SCN2A epileptic encephalopathy with severe cortical dysplasia detected by prenatal MRI.
Bernardo S et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2017
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