Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
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SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy.
Zhu Z et al.
Children (basel, Switzerland), 2022
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
SCN1B-linked early infantile developmental and epileptic encephalopathy.
Aeby A et al.
Annals of Clinical and Translational Neurology, 2019
Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.
Darras N et al.
American Journal of Medical Genetics. Part A, 2019
Delayed maturation of GABAergic signaling in the Scn1a and Scn1b mouse models of Dravet Syndrome.
Yuan Y et al.
Scientific Reports, 2019
Voltage-Gated Sodium Channel β1/β1B Subunits Regulate Cardiac Physiology and Pathophysiology.
Edokobi N et al.
Frontiers in Physiology, 2018
Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.
Ramadan W et al.
Clinical Genetics, 2017
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