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

Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes.

Seizure - 1 Mar 2012

Steinlein Ortrud K, Hoda Jean-Charles, Bertrand Sonia, Bertrand Daniel

Abstract excerpt

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a rare familial seizure disorder caused by mutations in at least two different subunit genes of the neuronal nicotinic acetylcholine receptor (nAChR), CHRNA4 and CHRNB2. ADNFLE was initially described as a "pure" seizure disorder with a mostly benign course. We have analysed the clinical features of 19 ADNFLE families from 12 countries with a total of...

Read the complete abstract on PubMed

Topics

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

Share to Epilepsy, Frontal Lobe
Share to CHRNA4 gene
Share to Mental Disorders

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

Share to Mutation

Share to Phenotype

Share to Receptors, Nicotinic

Source

Identifiers

PMID: 22036597
DOI: 10.1016/j.seizure.2011.10.003

Genes

CHRNA4
CHRNB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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

Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes.PMID 22036597Read ↗

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

Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore.Semantic proximity Read ↗

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

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.Semantic proximity Read ↗

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

A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely.Semantic proximity Read ↗

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

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

The role of the nicotinic acetylcholine receptors in sleep-related epilepsy.Semantic proximity Read ↗

Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy caused by different mutations.Semantic proximity Read ↗

A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy.Semantic proximity Read ↗

Nocturnal frontal lobe epilepsy and the acetylcholine receptor.Semantic proximity Read ↗

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