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

Genetic heterogeneity in familial nocturnal frontal lobe epilepsy.

Progress in brain research - 1 Jan 2014

Steinlein Ortrud K

Abstract excerpt

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) was the first epilepsy in humans that could be linked to specific mutations. It had been initially described as a channelopathy due to the fact that for nearly two decades mutations were exclusively found in subunits of the nicotinic acetylcholine receptor. However, newer findings demonstrate that the molecular pathology of ADNFLE is much more complex...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to Epilepsy, Frontal Lobe
Share to Genetic Heterogeneity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 25194481
DOI: 10.1016/B978-0-444-63326-2.00001-6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic heterogeneity in familial nocturnal frontal lobe epilepsy.PMID 25194481Read ↗

Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)".Semantic proximity Read ↗

Genetic basis of autosomal dominant nocturnal frontal lobe epilepsy.Semantic proximity Read ↗

[Molecular and genetic basis of idiopathic nocturnal frontal lobe epilepsy].Semantic proximity Read ↗

Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview.Semantic proximity Read ↗

Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes.Semantic proximity Read ↗

Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability.Semantic proximity Read ↗

Genetic focal epilepsies: state of the art and paths to the future.Semantic proximity Read ↗

Autosomal dominant nocturnal frontal lobe epilepsy: an electroclinical study of a Norwegian family with ten affected members.Semantic proximity Read ↗

Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families.Semantic proximity Read ↗

Genetic models of focal epilepsies.Semantic proximity Read ↗

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy.Semantic proximity Read ↗

Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy.Semantic proximity Read ↗

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