ArticleNature genetics1995
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2.
Article in Nature genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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43 citing papers in PubMed, 323 citations in OpenAlex.
- Editorial: Genetically determined epilepsies: Perspectives in the era of precision medicine.Frontiers in neurology · 2022Article
- Epilepsy With Auditory Features: From Etiology to Treatment.Frontiers in neurology · 2021Review
- Reduced GABAergic Neuron Excitability, Altered Synaptic Connectivity, and Seizures in a KCNT1 Gain-of-Function Mouse Model of Childhood Epilepsy.Cell reports · 2020Article
- Ring chromosomes: from formation to clinical potential.Protoplasma · 2018Review
- Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project.Neurology · 2017Article
- Phenotypical heterogeneity of morpheic seizures in ring chromosome 20 syndrome: a videopolysomnographic evidence.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2017Article
- Distinctive effects of nicotinic receptor intracellular-loop mutations associated with nocturnal frontal lobe epilepsy.Neuropharmacology · 2016Article
- Nocturnal frontal lobe epilepsy.Current neurology and neuroscience reports · 2014Review
- 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
- Nicotinic excitatory postsynaptic potentials in hippocampal CA1 interneurons are predominantly mediated by nicotinic receptors that contain α4 and β2 subunits.Neuropharmacology · 2011Article
- Candidate genes for idiopathic epilepsy in four dog breeds.BMC genetics · 2011Article
- Altered fast- and slow-twitch muscle fibre characteristics in female mice with a (S248F) knock-in mutation of the brain neuronal nicotinic acetylcholine receptor.Journal of muscle research and cell motility · 2009Article
- Demonstration of functional alpha4-containing nicotinic receptors in the medial habenula.Neuropharmacology · 2009Article
- Tumor-associated epilepsy and glioma: are there common genetic pathways?Acta oncologica (Stockholm, Sweden) · 2009Review
- Diagnosis and treatment of paroxysmal dyskinesias revisited.Therapeutic advances in neurological disorders · 2008Article
- Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy.Proceedings of the National Academy of Sciences of the United States of America · 2006Article
- Novel seizure phenotype and sleep disruptions in knock-in mice with hypersensitive alpha 4* nicotinic receptors.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2005Article
- Paroxysmal Dyskinesias in Children.Current treatment options in neurology · 2003Article
- Brain sites of movement disorder: genetic and environmental agents in neurodevelopmental perturbations.Neurotoxicity research · 2003Review
- Neurodevelopmental liabilities in epilepsy.Neurotoxicity research · 2003Review
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6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The epilepsies comprise a group of syndromes that are divided into generalized and partial (focal) types. Familial occurrence has long been recognized but progress in mapping epilepsy genes has been slow except for rare cases where the inheritance is easily determined from classical genetic studies. Linkage is established for three generalized syndromes: the EBN1 and EBN2 genes for benign familial neonatal convulsions (BFNC) map to chromosomes 20q and 8q (refs 2-5), the EPM1 gene for Unverricht-Lundborg disease maps to 21q (ref. 6) and the gene for the northern epilepsy syndrome maps to 8p (ref. 7). A claim for linkage of the EJM1 gene for the common generalized syndrome of juvenile myoclonic epilepsy to 6p is currently in dispute. Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) was recently described in five families. We now report the chromosomal assignment, to 20q13.2, for the gene for ADNFLE in one large Australian kindred with 27 affected individuals spanning six generations.
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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.