Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0043167 (pertussis)
 19,595 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The diagnosis of epilepsy is sometimes difficult in childhood. The events witnessed in children may be atypical and the interictal electroencephalogram (EEG) may be normal or contain non-specific abnormalities. The problems may be overcome by recording events on video-EEG telemetry. Over the first 18 months of this service, 82 patients were monitored--42 males and 40 females. Forty-two were daytime studies, 37 day and night, and 3 night only. Surface electrodes only were used. The system used was the 24-channel la Mont Video-telemetry unit from Medical Systems International. Parents served as observers. Events and a sample of interictal data were analysed. The commonest reason for referral was to determine whether an event was ictal. Other reasons included seizure frequency, classification or localization of onset. Presenting events were unusual motor activity, staring, change of behaviour, distressing visceral sensations, combinations of the above and miscellaneous phenomena. Events occurred during the recording in 66 of 82 subjects. Of these, 23 were judged to be ictal. These were complex partial seizures, absence seizures, myoclonic jerks, generalized tonic seizures, gelastic seizures and mixed seizure disorders. The non-ictal events were commonly habit tics or normal sleep phenomena, although pertussis, pallid syncopal attacks and extrapyramidal movements occurred. In 76% of cases the management of the child's condition was influenced by the telemetric study.
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PMID:Commencement of a paediatric EEG-video telemetry service. 212 62

Dravet syndrome combines clonic generalized, focal or unilateral seizures, beginning within the first year of life, often triggered by hyperthermia whatever its cause, including pertussis vaccination. Long-lasting febrile seizures are frequent in infancy and repeat status epilepticus (SE) has negative prognostic value. Massive myoclonus, rare absences, complex partial seizures and generalized spikes may appear several years later. Myoclonic status may occur in childhood, but acute encephalopathy with febrile SE followed by ischemic lesions and psychomotor impairment, the most severe condition, occurs mainly within the first five years of life. Generalized tonic-clonic and tonic seizures in sleep predominate in adulthood. Non epileptic manifestations appear with age, including intellectual disability, ataxia and crouching gait. Incidence of SUDEP is high, whatever the age. SCN1A haploinsufficiency producing NaV1.1 dysfunction mainly affects GABAergic neurons. In cortical interneurons it explains epilepsy, in cerebellum the ataxia, in basal ganglia and motor neurons the crouching gait, in hypothalamus the thermodysregulation and sleep troubles, and dysfunction in all these structures contributes to psychomotor delay. Valproate, stiripentol, topiramate and bromide are the basis of antiepileptic treatment, whereas inhibitors of sodium channel worsen the condition. Benzodiazepines seem to facilitate acute encephalopathy when given chronically, and they should be restricted to SE. Ketogenic diet is useful in both chronic and acute conditions. Only targeting SCN1A haploinsufficiency and NaV1.1 dysfunction could improve non epileptic manifestations of this condition that deserves being considered as a disease, not only as an epilepsy syndrome.
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PMID:From genotype to phenotype in Dravet disease. 2781 82