1/49. nocturnal paroxysmal dystonia due to a subfrontal cortical dysplasia.The nature and nosology of nocturnal paroxysmal dystonia (NPD) have been controversial. Some authors consider it as a type of parasomnia, akin to night terrors and the official classification of Sleep Disorder includes NPD within the parasomnias [1]. Others have opened for its epileptic nature, although mainly on circumstantial evidence. The location of the epileptogenic area has been so far unknown. A child with NPD was studied extensively, and in spite of normal scalp EEGs, all of his attacks were shown to originate from his right orbitofrontal cortex. Surgical ablation of an unsuspected cortical dysplastic lesion led to full control.- - - - - - - - - - ranking = 1keywords = frontal (Clic here for more details about this article) |
2/49. A de novo mutation in sporadic nocturnal frontal lobe epilepsy.Autosomal dominant nocturnal frontal lobe epilepsy is sometimes due to mutations in CHRNA4. The commoner presentation of sporadic nocturnal frontal lobe epilepsy has not been associated with genetic defects. A 30-year-old woman diagnosed as having sporadic nocturnal frontal lobe epilepsy was found to have a de novo Ser252Leu CHRNA4 mutation. A pattern is emerging of site-specific mutation within the second transmembrane domain of CHRNA4 in association with autosomal dominant nocturnal frontal lobe epilepsy and sporadic nocturnal frontal lobe epilepsy in families with different ethnic backgrounds.- - - - - - - - - - ranking = 3963.6477684415keywords = frontal lobe epilepsy, lobe epilepsy, epilepsy, frontal lobe, frontal, lobe (Clic here for more details about this article) |
3/49. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, idiopathic partial epilepsy characterized by clusters of motor seizures occurring in sleep. We describe a mutation of the beta2 subunit of the nicotinic acetylcholine receptor, effecting a V287M substitution within the M2 domain. The mutation, in an evolutionary conserved region of CHRNB2, is associated with ADNFLE in a Scottish family. Functional receptors with the V287M mutation are highly expressed in xenopus oocytes and characterized by an approximately 10-fold increase in acetylcholine sensitivity. CHRNB2 is a new gene for idiopathic epilepsy, the second acetylcholine receptor subunit implicated in ADNFLE.- - - - - - - - - - ranking = 2204.9299058726keywords = frontal lobe epilepsy, lobe epilepsy, epilepsy, frontal lobe, frontal, lobe (Clic here for more details about this article) |
4/49. Relationship disturbances and parent-child therapy. Sleep problems.This article has attempted to establish the importance of considering behavioral disturbances in infancy and early childhood as disturbances of the parent-child relationship. When the psychologic and mental mechanisms of the individual infant are too immature to sustain disturbed behavior across several settings and when the behavioral disturbance seems to be specific to a particular relationship, it is more appropriate to diagnose the pathology as being in the relationship. The article has offered a diagnostic framework of relationship pathology that spans the spectrum from normal variation (relationship perturbation) to relationship behaviors that are at risk of becoming a disorder (relationship disturbance) to significant relationship disorders that most likely require a professional intervention. A multiaxial assessment protocol is recommended that evaluates primary relationships (axis I), parent-infant interaction styles (axis II), the parent and infant as individuals (axis III), and more distal contextual factors that affect the relationship (axis IV). Sleep disturbances in infancy have been used as an example to demonstrate the spectrum of relationship pathology. Additional research is needed to develop more precise, age-relevant cut points for the spectrum of relationship pathology for sleep problems and for other parent-infant relationship disturbances in the areas of feeding, excessive crying, and limit setting or tantrums. More research is also needed to define better when and how relationship pathology becomes transformed into individual pathology and how early intervention may alter the course of this trajectory.- - - - - - - - - - ranking = 0.003305155293212keywords = childhood (Clic here for more details about this article) |
5/49. Human herpesvirus 6 limbic encephalitis after stem cell transplantation.central nervous system complications are common in stem cell transplant recipients, but selective involvement of the medial temporal area is unusual. The 5 patients reported here presented after stem cell transplantation with increased hippocampal T2 signal on magnetic resonance imaging and increased hippocampal glucose uptake on [F-18]fluorodeoxyglucose-positron emission tomography (FDG-PET) associated with short-term memory loss, insomnia, and temporal lobe electrographic seizure activity. The initial scalp electroencephalograms (EEGs) failed to detect seizure activity in these patients, although the memory dysfunction along with the magnetic resonance imaging and FDG-PET findings suggested subcortical seizure activity. However, extended EEG monitoring revealed repetitive temporal lobe electrographic seizure activity. Follow-up MRIs in 2 patients and postmortem findings on 1 patient suggested that hippocampal sclerosis had developed following the clinical syndrome. cerebrospinal fluid studies revealed the presence of human herpesvirus 6, variant B, dna in all of 3 patients who had lumbar punctures. Immunohistochemical staining for the P41 and P101 human herpesvirus 6 protein antigens showed numerous immunoreactive astrocytes and neurons in the hippocampus of 1 of the patients who died from other causes. Because of its subtle clinical presentation, this syndrome may be underrecognized, but can be diagnosed with appropriate magnetic resonance imaging techniques, EEG monitoring, and cerebrospinal fluid viral studies.- - - - - - - - - - ranking = 0.021755617985867keywords = lobe (Clic here for more details about this article) |
6/49. Sleep-wake schedule disorder disability: a lifelong untreatable pathology of the circadian time structure.Certain sleep-wake schedule disorders (SWSDs) cannot be successfully managed clinically using conventional methods of sleep therapy. We describe two cases of SWSD, the first following head trauma and the second originating during childhood, that had been misdiagnosed by physicians for many years. After conventional treatment for SWSD with light therapy and melatonin failed to bring about substantial improvement, it was determined that they were suffering from an incurable disability. Hence, we propose new medical terminology for such cases--SWSD disability. SWSD disability is an untreatable pathology of the circadian time structure. patients suffering from SWSD disability should be encouraged to accept the fact that they suffer from a permanent disability, and that their quality of life can only be improved if they are willing to undergo rehabilitation. It is imperative that physicians recognize the medical condition of SWSD disability in their patients and bring it to the notice of the public institutions responsible for vocational and social rehabilitation.- - - - - - - - - - ranking = 0.003305155293212keywords = childhood (Clic here for more details about this article) |
7/49. sleep disorders versus epilepsy: use of video EEG as a diagnostic tool.sleep disorders, especially parasomnias, are easily confused with the nocturnal epilepsies. Two cases are presented to show how misdiagnosis can occur, and video electroencephalogram can be used to resolve the issue so as to prescribe the specific treatment, avoid wrong treatment and unnecessary suffering.- - - - - - - - - - ranking = 5.8067356992257keywords = epilepsy (Clic here for more details about this article) |
8/49. Paroxysmal "nightmares". Sequel of a stroke responsive to diphenylhydantoin.A 65-year-old man had nightmares a few weeks after a right temporal lobe infarction. electroencephalography showed no epileptic activity. Therapy with diphenylhydantoin produced complete remission of his symptoms. On the bases of their acute onset, their association with sleep, their occasional occurrence while the patient was awake, the lack of effect of diazepam and flurazepam, and the good response to diphenylhydantoin, we propose that these episodes were partial seizures secondary to the right temporal lobe lesion.- - - - - - - - - - ranking = 0.021755617985867keywords = lobe (Clic here for more details about this article) |
9/49. Long-term neuropsychological follow-up and nosological considerations in five patients with continuous spikes and waves during slow sleep.Continuous spikes and waves during slow sleep (CSWSS) is a well-known EEG pattern that can be associated with cognitive and behavioural deterioration. We present the long-term neuropsychological follow-up and nosological considerations of five patients who developed CSWSS during childhood. All five of our patients presented CSWSS, although the duration and severity of this pattern varied. The outcome was of three basic types: acquired frontal dementia, language deficits and normal. Four of our patients were initially diagnosed with landau-kleffner syndrome but have had markedly diverse outcomes in terms of the severity and type of compromise. Our data suggest that the initial diagnosis, according to current nosological categories, has almost no prognostic significance, while the length and the age of onset of CSWSS, the site of epileptiform activity and the individual neuropsychological profile are more useful for identifying the long-term outcome of patients with CSWSS.- - - - - - - - - - ranking = 0.20330515529321keywords = frontal, childhood (Clic here for more details about this article) |
10/49. Interictal paroxysmal epileptic discharges during sleep in childhood: phenotypic variability in a family.We report three children of the same parents who exhibited various types of cognitive disorders, ranging from severe mental deficiency with transient autistic-like regression to specific neuropsychological disabilities, associated with paroxysmal EEG abnormalities with various patterns of severity. This familial association highly suggests a genetic factor responsible for both epileptic discharges on EEG and cognitive dysfunction.- - - - - - - - - - ranking = 0.013220621172848keywords = childhood (Clic here for more details about this article) |
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