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

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

20 Apr 2014

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Epilepsy research and treatment
Share to Genetics and Neurodevelopmental Disorders
Share to Genomics and Rare Diseases

Source

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 24747641
DOI: 10.1038/ng.2952

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 19 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo mutations in HCN1 cause early infantile epileptic encephalopathyPMID 24747641Read ↗

Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review.Semantic proximity Read ↗

A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability.Semantic proximity Read ↗

Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.Semantic proximity Read ↗

Do the functional properties of HCN1 mutants correlate with the clinical features in epileptic patients?Semantic proximity Read ↗

Early onset epileptic encephalopathy caused by de novo SCN8A mutations.Semantic proximity Read ↗

Novel HCN1 Mutations Associated With Epilepsy and Impacts on Neuronal ExcitabilitySemantic proximity Read ↗

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic EncephalopathySemantic proximity Read ↗

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsySemantic proximity Read ↗

HCN1 epilepsy: From genetics and mechanisms to precision therapiesSemantic proximity Read ↗

Novel human pathological mutations. Gene symbol: SCN1A. Disease: severe myoclonic epilepsy of infancy.Semantic proximity Read ↗

De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.Semantic proximity Read ↗

Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy.Semantic proximity Read ↗

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