Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Dravet syndrome and its mimics: Beyond SCN1A.

Epilepsia - 1 Nov 2017

Steel Dora, Symonds Joseph D, Zuberi Sameer M, Brunklaus Andreas

Abstract excerpt

OBJECTIVE: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy characterized by the onset of prolonged febrile and afebrile seizures in infancy, and evolving to drug-resistant epilepsy with accompanying cognitive, behavioral, and motor impairment. Most cases are now known to be caused by pathogenic variants in the sodium channel gene SCN1A, but several other genes have also been...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Epilepsies, Myoclonic
Share to STXBP1 gene
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to NAV1.2 Voltage-Gated Sodium Channel

Share to NAV1.6 Voltage-Gated Sodium Channel

Share to Phenotype

Share to Receptors, GABA-A

Source

Identifiers

PMID: 28880996
DOI: 10.1111/epi.13889

Genes

CHD2
GABRA1
GABRG2
HCN1
KCNA2
PCDH19
STXBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dravet syndrome and its mimics: Beyond SCN1A.PMID 28880996Read ↗

Dravet syndrome: a genetic epileptic disorder.Semantic proximity Read ↗

Clinical and Genetic Features of Dravet Syndrome: A Prime Example of the Role of Precision Medicine in Genetic EpilepsySemantic proximity Read ↗

The genetics of Dravet syndrome.Semantic proximity Read ↗

Do All Roads Lead to Rome? Genes Causing Dravet Syndrome and Dravet Syndrome-Like PhenotypesSemantic proximity Read ↗

Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathiesSemantic proximity Read ↗

Dravet Syndrome: Past, Present, and Future.Semantic proximity Read ↗

SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations.Semantic proximity Read ↗

[Dravet syndrome as a cause of epilepsy and learning disability].Semantic proximity Read ↗

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

Dravet syndrome: the main issues.Semantic proximity Read ↗

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

Genetic exploration of Dravet syndrome: two case report.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.