ReviewJournal of neurology2004
Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview.
Review in Journal of neurology, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 240 citations in OpenAlex.
- Emerging Role of Tripartite Synaptic Transmission in the Pathomechanism of Autosomal-Dominant Sleep-Related Hypermotor Epilepsy.International journal of molecular sciences · 2025Review
- Neuronal potassium channel activity triggers initiation of mRNA translation through binding of translation regulators.Science advances · 2025Article
- Sleep links hippocampal propensity for epileptiform activity to its viscerosensory inputs.Frontiers in neuroscience · 2025Article
- Can rodent models elucidate the pathomechanisms of genetic epilepsy?British journal of pharmacology · 2022Review
- Autosomal dominant sleep-related hypermotor epilepsy associated with a novel mutation ofTranslational neuroscience · 2022Article
- Probable Mechanism of Antiepileptic Effect of the Vagus Nerve Stimulation in the Context of the Recent Results in Sleep Research.Frontiers in neuroscience · 2020Article
- Candidate Genes Associated with Delayed Neuropsychomotor Development and Seizures in a Patient with Ring Chromosome 20.Case reports in genetics · 2020Article
- Article
- Sleep-Related Epilepsy.Current treatment options in neurology · 2016Review
- Article
- Functional characterization of a CRH missense mutation identified in an ADNFLE family.PloS one · 2013Article
- Mice expressing the ADNFLE valine 287 leucine mutation of the Β2 nicotinic acetylcholine receptor subunit display increased sensitivity to acute nicotine administration and altered presynaptic nicotinic receptor function.Pharmacology, biochemistry, and behavior · 2013Article
- Neuronal nicotinic receptors in sleep-related epilepsy: studies in integrative biology.ISRN biochemistry · 2012Review
- Article
- Recent advances in gene manipulation and nicotinic acetylcholine receptor biology.Biochemical pharmacology · 2011Review
- Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the β2 nicotinic receptor.Molecular psychiatry · 2011Article
- Genetic variations and associated pathophysiology in the management of epilepsy.The application of clinical genetics · 2011Article
- A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.PloS one · 2010Article
- Article
- Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy.Molecular pharmacology · 2009Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an idiopathic epilepsy, with a spectrum of clinical manifestations, ranging from brief, stereotyped, sudden arousals to more complex dystonic-dyskinetic seizures. Video-polysomnography allows a correct differential diagnosis. There is no difference between sporadic nocturnal frontal lobe epilepsy (NFLE) and ADNFLE in the clinical and neurophysiological findings. ADNFLE is the first idiopathic epilepsy for which a genetic basis has been identified. Mutations have been found in two genes (CHRNA4 and CHRNB2) coding for neuronal nicotinic receptor subunits (alpha4 and beta2, respectively). Contrasting data have been reported on the effect of these mutations on the functionality of the receptor.Moreover, the incomplete data on the neuronal network/s in which this receptor is involved, make difficult the understanding of the genotype-phenotype correlation. This is an overview on the clinical and genetic aspects of ADNFLE including a discussion of some open questions on the role of the neuronal nicotinic receptor subunit mutations in the pathogenesis of this form of epilepsy.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.