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

Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations.

Journal of child neurology - 1 Aug 2009

Stafstrom Carl E

Abstract excerpt

Advances in genetics have increased our understanding of the underlying pathophysiologic mechanisms that cause severe epilepsy syndromes of early childhood. Many of the mutations associated with these syndromes are located in genes coding for ion channels or their accessory subunits, giving rise...

Read the complete abstract on PubMed

Topics

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

Share to Brain Chemistry
Share to Epilepsies, Myoclonic
Share to Epilepsy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Carrier Screening

Share to Genetic Counseling

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to Nerve Tissue Proteins

Share to Sodium Channels

Source

Identifiers

PMID: 19666879
DOI: 10.1177/0883073809338152

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19666879-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations.PMID 19666879Read ↗

Expanding spectrum of SCN1A-related phenotype with novel mutations.Semantic proximity Read ↗

Genetic basis of pediatric epilepsy syndromesSemantic proximity Read ↗

SCN1A-related phenotypes: Epilepsy and beyond.Semantic proximity Read ↗

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

Dravet syndrome--from epileptic encephalopathy to channelopathy.Semantic proximity Read ↗

Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: associated with loss of function of Na(v) 1.1.Semantic proximity Read ↗

NaV1.1 channels and epilepsy.Semantic proximity Read ↗

Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.Semantic proximity Read ↗

Autosomal dominant SCN8A mutation with an unusually mild phenotype.Semantic proximity Read ↗

Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.Semantic proximity Read ↗

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

SCN1A mutations and epilepsy.Semantic proximity Read ↗

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