Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0037315 (sleep apnea)
 8,000 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 4-week-old infant experienced prolonged central sleep apnea requiring resuscitation. At 6 months of age he developed episodic obstructive apnea (diagnosed as laryngospasm by direct laryngoscopy) with an abnormal EEG and a normal computed tomography (CT) scan, and at 14 months of age he developed hemiparesis due to a gemistocytic astrocytoma grade III-IV. Following removal of the mass, he has had occasional seizure activity, but no further episodes of obstructive apnea.
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PMID:Astrocytoma in an infant with prolonged apnea. 742 32

Four boys aged 6-16 years with neurodevelopmental deficits were treated with CPAP for obstructive sleep apnoea. Their diagnoses were: Obesity with mild mental retardation, (2) attention deficit hyperactivity disorder, (3) epilepsy associated with left hemiparesis and (4) mild mental retardation due to fragile X syndrome. Previous therapeutic attempts, including adenotonsillectomy, amitriptyline and methylphenidate in our patients prior to CPAP treatment were unsuccessful. A follow-up period of 12-48 months demonstrated a number of clinical benefits such as improvement in sleep quality and daily arousal, and a decrease in the frequency of seizures and episodes of pneumonia. Polysomnographic studies indicated a significant improvement in sleep parameters such as apnoea frequency, awakenings, sleep efficiency and arterial oxygen saturation. Side effects were mild and readily alleviated. CPAP is a feasible therapeutic intervention in intractable obstructive sleep apnoea of childhood, even when associated with neurodevelopmental deficits.
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PMID:CPAP treatment of obstructive sleep apnoea and neurodevelopmental deficits. 754 99

Sleepiness is a common complaint in the epilepsy clinic, and sleep disturbances are frequently reported by seizure patients. Polysomnography was performed in 6 patients with complex partial seizures, with and without secondary generalization, who had not yet started anticonvulsant treatment or whose medication had been discontinued. Five patients sleep through the night, but 1 slept only 3 hours. Two patients had reduced sleep efficiency and slow wave sleep was reduced or absent in 4 patients. No REM sleep disturbances occurred. Two patients had almost no periodic leg movements of sleep (PLMS), 2 had few or no arousals and PLMS indices of 5 or less, and 2 had markedly elevated PLMS and arousal indices. No apneas or significant hypopneas were recorded, but snoring indices were elevated in 2 patients. These findings suggest that sleep apnea is infrequent in unmedicated seizure patients. Some patients may have exaggerated PLMS with arousals, possibly related to epileptiform discharge and perhaps exacerbated by medications, but apparently not due to nocturnal seizures.
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PMID:Sleep apnea and periodic leg movements in epilepsy. 781 95

We identified seven patients with refractory partial epilepsy and sleep apnea. Treatment of the sleep apnea with nasal continuous positive airway pressure (CPAP), protriptyline, trazodone, acetazolamide, or tracheostomy reduced seizure frequency and severity in six patients. Success with CPAP depended largely on compliance. Four of five patients had a clear reduction in seizure frequency with the use of CPAP. Sleep apnea may exacerbate epilepsy by causing sleep disruption and deprivation, hypoxemia, and decreased cerebral blood flow. In epilepsy patients with risk factors (eg, obesity) or markers (eg, habitual snoring, daytime somnolence) for sleep apnea, a careful sleep history should be elicited and a polysomnogram obtained when indicated. Treatment of the sleep disorder can improve seizure control.
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PMID:Epilepsy and sleep apnea syndrome. 884 27

Sleep-related disorders are revisited in the light of the physiological modality of NREM sleep expressed by the cyclic alternating pattern (CAP). Owing to its fluctuating properties on vigilance, muscle tone, and vegetative activities, CAP represents a highly favorable condition for the occurrence of interictal generalized and focal lesional EEG discharges, for motor seizures, and for periodic jerks in nocturnal myoclonus. All these manifestations are significantly associated with the components of activation during CAP, i.e., the A phases. On the contrary, the B phases of CAP appear chronologically linked to inhibitory phenomena in epileptic patients and in nocturnal myoclonus. The two phases of CAP seem especially involved in sleep apnea syndrome, where respiration is interrupted during a phase B and restored during a phase A. CAP rate, that measures the effort of the brain to maintain sleep, is increased by all conditions that induce vigilance instability such as noise, clinical insomnia, interictal EEG paroxysms, nocturnal seizures, periodic leg movements, and in certain extreme pathologic conditions such as Creutzfeldt-Jakob disease and stage 2 coma.
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PMID:Clinical applications of cyclic alternating pattern. 824 61

The central autonomic network (CAN) is an integral component of an internal regulation system through which the brain controls visceromotor, neuroendocrine, pain, and behavioral responses essential for survival. It includes the insular cortex, amygdala, hypothalamus, periaqueductal gray matter, parabrachial complex, nucleus of the tractus solitarius, and ventrolateral medulla. Inputs to the CAN are multiple, including viscerosensory inputs relayed on the nucleus of the tractus solitarius and humoral inputs relayed through the circumventricular organs. The CAN controls preganglionic sympathetic and parasympathetic, neuroendocrine, respiratory, and sphincter motoneurons. The CAN is characterized by reciprocal interconnections, parallel organization, state-dependent activity, and neurochemical complexity. The insular cortex and amygdala mediate high-order autonomic control, and their involvement in seizures or stroke may produce severe cardiac arrhythmias and other autonomic manifestations. The paraventricular and other hypothalamic nuclei contain mixed neuronal populations that control specific subsets of preganglionic sympathetic and parasympathetic neurons. Hypothalamic autonomic disorders commonly produce hypothermia or hyperthermia. Hyperthermia and autonomic hyperactivity occur in patients with head trauma, hydrocephalus, neuroleptic malignant syndrome, and fatal familial insomnia. In the medulla, the nucleus of the tractus solitarius and ventrolateral medulla contain a network of respiratory, cardiovagal, and vasomotor neurons. Medullary autonomic disorders may cause orthostatic hypotension, paroxysmal hypertension, and sleep apnea. Neurologic catastrophes, such as subarachnoid hemorrhage, may produce cardiac arrhythmias, myocardial injury, hypertension, and pulmonary edema. Multiple system atrophy affects preganglionic autonomic, respiratory, and neuroendocrine outputs. The CAN may be critically involved in panic disorders, essential hypertension, obesity, and other medical conditions.
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PMID:The central autonomic network: functional organization, dysfunction, and perspective. 841 66

Sleep deprivation increases the risk of recurrent seizures in epileptic patients. We identified 10 patients with recurrent seizures and sleep disruption related to obstructive sleep apnoea. Two patients were treated with positional therapy and the remaining eight patients were treated with continuous positive airway pressure. Three of the patients became seizure free and a fourth patient had a greater than 95% reduction in seizure frequency following only the initiation of therapy for the sleep apnoea. Three of these four patients responding to therapy, had a state-dependent seizure pattern. Two of the four responders did not exhibit the typical body habitus for obstructive sleep apnoea. Three additional patients improved in seizure frequency with change in anticonvulsant medication and treatment of the obstructive sleep apnoea. The remaining three patients had less than 50% reduction in seizure frequency with treatment of the obstructive sleep apnoea. These results indicate sleep disruption caused by sleep apnoea may increase the seizure frequency in some epileptic patients. Regardless of body habitus, epilepsy patients should be questioned carefully for a history of sleep disturbance and state dependence to their seizures. Treatment of sleep disorders in this population may lower the frequency of recurrent seizures.
Seizure 1996 Mar
PMID:Improvement of epileptic seizure control with treatment of obstructive sleep apnoea. 877 57

Severe Hunter syndrome is a fatal X-linked lysosomal storage disorder caused by iduronate-2-sulphatase (IDS) deficiency. Patients with complete deletion of the IDS locus often have atypical phenotypes including ptosis, obstructive sleep apnoea, and the occurrence of seizures. We have used genomic DNA sequencing to identify several new genes in the IDS region. DNA deletion patients with atypical symptoms have been analysed to determine whether these atypical symptoms could be due to involvement of these other loci. The occurrence of seizures in two individuals correlated with a deletion extending proximal of IDS, up to and including part of the FMR2 locus. Other (non-seizure) symptoms were associated with distal deletions. In addition, a group of patients with no variant symptoms, and a characteristic rearrangement involving a recombination between the IDS gene and an adjacent IDS pseudogene (IDS psi), showed normal expression of loci distal to IDS. Together, these results identify FMR2 as a candidate gene for seizures, when mutated along with IDS.
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PMID:Molecular and phenotypic variation in patients with severe Hunter syndrome. 914 53

A case of a patient with medically intractable epilepsy, who developed obstructive sleep apnoea (OSA), and an increase in seizure frequency, as a consequence of weight gain following treatment with vigabatrin is described. The relationship between exacerbation of epilepsy and sleep disruption secondary to OSA is discussed. Recommendations regarding the choice of anticonvulsants in patients at risk of developing OSA are made.
Seizure 1997 Jun
PMID:Obstructive sleep apnoea following rapid weight gain secondary to treatment with vigabatrin (Sabril). 920 53

Four patients, diagnosed with refractory epilepsy, were treated with both continuous positive airway pressure (CPAP) and antiepileptic medication (AEM) and showed > 50% reduction in seizures after 6 months-2 years follow-up. Two patients subsequently had AEM withdrawn and are seizure free and in one such patient, obstructive sleep apnoea (OSA) has remained the only operative diagnosis. This dual approach to care provided a real advantage to the management of patients with the dual diagnoses of OSA and epilepsy, which was refractory to standard AEM therapy.
Seizure 1997 Aug
PMID:The use of CPAP in patients with refractory epilepsy. 930 25


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