Article

B-cell lymphoblastic leukemia in an adolescent with Dravet syndrome

2023-03-06

Abstract excerpt

A 19 year-old adolescent girl with Dravet syndrome, characterized by complex seizure disorder and global developmental delay, presented with B-cell acute lymphoblastic leukemia. The genetic basis for her Dravet syndrome was a pathogenic variant in SCN1A, a sodium channel subunit. SCN1A is chiefly expressed in neuronal tissue, but bioinformatic analysis demonstrated its presence in B cell lineage. One estimate sugg...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: eb1dfe72-e90e-592b-8cb5-66f5ceb81429
DOI: 10.22541/au.167808426.69029379/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

B-cell lymphoblastic leukemia in an adolescent with Dravet syndromeDOI 10.22541/au.167808426.69029379/v1Read

Dravet syndrome and its mimics: Beyond SCN1A.Semantic proximity Read

The genetics of Dravet syndrome.Semantic proximity Read

Dravet syndrome: a genetic epileptic disorder.Semantic proximity Read

Dravet syndrome in children-A population-based study.Semantic proximity Read

Dravet Syndrome: Diagnosis and Long-Term Course.Semantic proximity Read

Dravet syndrome and Dravet syndrome-like phenotype: a systematic review of the SCN1A and PCDH19 variants.Semantic proximity Read

The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009.Semantic proximity Read

Acute central nervous system toxicity during treatment of pediatric acute lymphoblastic leukemia: phenotypes, risk factors and genotypes.Semantic proximity Read

When should clinicians order genetic testing for Dravet syndrome?Semantic proximity Read

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.Semantic proximity Read

[Analysis of SCN1A gene variants among patients with Dravet syndrome].Semantic proximity Read

Prenatal sodium channel dysfunction in Dravet syndrome alters cortical developmentSemantic proximity Read