Disease: Epilepsy- nocturnal- frontal lobe type
- <em>CABP4</em> mutation in mice shows alteration in protein expression level and neuron discharge frequency
- A case of nocturnal frontal lobe epilepsy in a patient with spinocerebellar ataxia type 17
- An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics
- Avoid falling into the depths of the insular trap
- Calcifying pseudoneoplasm of the neuraxis
- Channelopathies in neurology
- Complex Partial Seizure
- Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all
- Diagnosis and treatment of paroxysmal dyskinesias revisited
- Disorders of membrane channels or channelopathies
- Distinctive effects of nicotinic receptor intracellular-loop mutations associated with nocturnal frontal lobe epilepsy
- Down the rabbit-hole: New perspectives from stereo-EEG in the investigation of sleep, nocturnal epilepsy and parasomnias
- Effect of carbamazepine and oxcarbazepine on wild-type and mutant neuronal nicotinic acetylcholine receptors linked to nocturnal frontal lobe epilepsy
- Epileptic seizures triggered by the use of a powered toothbrush
- Episodic nocturnal wandering in a patient with epilepsy due to a right temporoinsular low-grade glioma: relief following resection. Case report
- Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca<sup>2+</sup>-binding protein 4 (<em>CABP4</em>) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy
- Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca(2+)-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy
- Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis
- Familial (idiopathic) paroxysmal dyskinesias: an update
- First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene
- Five ADNFLE mutations reduce the Ca2+ dependence of the mammalian alpha4beta2 acetylcholine response
- Focal Impaired Awareness Seizure
- Focal Impaired Awareness Seizure
- Generation of epilepsy animal model bearing a genetic abnormality identified in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) of humans
- Genetic abnormalities underlying familial epilepsy syndromes
- Genetic disorders caused by mutated acetylcholine receptors
- Genetics of idiopathic epilepsies
- Human disorders caused by the disruption of the regulation of excitatory neurotransmission
- Hyperkinetic seizures in children
- Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear
- Increased sensitivity to agonist-induced seizures, straub tail, and hippocampal theta rhythm in knock-in mice carrying hypersensitive alpha 4 nicotinic receptors
- Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy
- Intractable seizures of frontal lobe origin: clinical characteristics, localizing signs, and results of surgery
- Ion channel diseases in neurology
- Ion channels and epilepsy
- Ion channels and epilepsy
- 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
- Mice lacking neuronal nicotinic acetylcholine receptor beta4-subunit and mice lacking both alpha5- and beta4-subunits are highly resistant to nicotine-induced seizures
- Molecular genetics of human familial epilepsy syndromes
- Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes
- Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors
- Mutation Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Reduces Low-Sensitivity alpha4beta2, and Increases alpha5alpha4beta2, Nicotinic Receptor Surface Expression
- Mutation Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Reduces Low-Sensitivity α4β2, and Increases α5α4β2, Nicotinic Receptor Surface Expression
- Neurological picture. Focal botulinum toxin injections lead to rapid resolution of myogenic artefact during EEG monitoring
- Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy
- Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation
- Nicotinic acetylcholine receptor mutations
- Nicotinic acetylcholine receptors and epilepsy
- Nicotinic Receptors in Sleep-Related Hypermotor Epilepsy: Pathophysiology and Pharmacology
- Nocturnal frontal lobe epilepsy presenting as obstructive type sleep apnea
- Nocturnal frontal lobe epilepsy presenting with restless leg syndrome-like symptoms
- Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function
- Nocturnal paroxysmal arousals with motor behaviors during sleep: frontal lobe epilepsy or parasomnia?
- Nocturnal paroxysmal dystonia related to a prerolandic dysplasia
- Novel seizure phenotype and sleep disruptions in knock-in mice with hypersensitive alpha 4* nicotinic receptors
- Occipito-Frontal Sharp Waves-An Under-Recognized Electroencephalogram Pattern in Self-Limited Idiopathic Childhood Focal Epilepsy
- Pathophysiology of epilepsy
- Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies
- Predictive clinical factors for the differential diagnosis of childhood extratemporal seizures
- Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype
- Revisiting autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) mutations in the nicotinic acetylcholine receptor reveal an increase in efficacy regardless of stochiometry
- Sleep-related epileptic behaviors and non-REM-related parasomnias: Insights from stereo-EEG
- Spontaneous epileptic seizures in transgenic rats harboring a human ADNFLE missense mutation in the β2-subunit of the nicotinic acetylcholine receptor
- Surgical treatment of drug-resistant nocturnal frontal lobe epilepsy
- Susceptibility genes in human epilepsy
- The identification of a novel mutation of nicotinic acetylcholine receptor gene CHRNB2 in a Chinese patient: Its possible implication in non-familial nocturnal frontal lobe epilepsy
- The Phe932Ile mutation in KCNT1 channels associated with severe epilepsy, delayed myelination and leukoencephalopathy produces a loss-of-function channel phenotype
- The role of central cholinergic system in epilepsy
- The role of NREM sleep micro-arousals in absence epilepsy and in nocturnal frontal lobe epilepsy
- The role of the insula in the parieto-frontomedial epileptic network. Clues from successful surgical treatment
- Two mutations linked to nocturnal frontal lobe epilepsy cause use-dependent potentiation of the nicotinic ACh response
- Variants in <em>CHRNB2</em> and <em>CHRNA4</em> Identified in Patients with Insular Epilepsy
- Variants in CHRNB2 and CHRNA4 Identified in Patients with Insular Epilepsy