Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0009952 (febrile convulsions)
 1,215 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Benign myoclonic epilepsy in infancy (BME) is characterized by the occurrence of brief myoclonic attacks in normal infants aged 4 months to 3 years. There is no prior personal history, although in some patients 1 or 2 isolated febrile convulsions may occur prior to the onset of myoclonias. A family history of epilepsy or febrile convulsions is present in 30% of cases. Myoclonic attacks are short and mild, they involve mainly the head and upper limbs. The psychomotor development continues normally after the onset of seizures. The EEG shows a normal background activity and generalized spike-wave or polyspike-wave discharges associated with the myoclonias. These abnormalities are activated by drowsiness and during the first stages of sleep. A clinical and EEG photosensitivity is present in one-third of the patients. Myoclonias can be easily controlled by valproate monotherapy. Rare grand mal seizures can occur during adolescence, after withdrawal of drug treatment. The psychomotor evolution is good if treatment is started early. When myoclonias begin during the first year of life, the diagnoses of cryptogenic infantile spasms and of non-epileptic benign infantile myoclonus must be eliminated. In cases with a later onset, the following diagnoses can usually be easily discarded: cryptogenic Lennox-Gastaut syndrome, myoclonic-astatic epilepsy and unclassified epilepsies with the association of myoclonias and other types of seizures.
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PMID:Benign myoclonic epilepsy of infancy: electroclinical symptomatology and differential diagnosis from the other types of generalized epilepsy of infancy. 141 73

The behavior and EEG of rat hyperthermic convulsions was studied. We found that a long run of high-voltage slow waves without convulsions, high-voltage irregular activity consisting of spikes and waves with intermittent myoclonus, and rapid spike and wave bursts accompanied by generalized clonic convulsions occurred sequentially. This behavioral and EEG activity is analogous to human febrile convulsions and supports the usefulness of this model for studies of human febrile convulsions. Rats frequently showed arrest of locomotion concurrently with paroxysmal EEG theta bursts before development of generalized convulsions. We speculate that this paroxysmal activity is a type of seizure discharge.
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PMID:Electroencephalographic study of rat hyperthermic seizures. 204 91

Benign myoclonic epilepsy of infancy (BMEI) is an idiopathic disorder characterized by spontaneous myoclonic attacks with onset in the first 2 years of life. We observed 6 neurologically normal infants (aged 6-21 months) with attacks that resembled those of BMEI but that occurred as reflex responses to unexpected auditory and tactile stimuli. four infants also had rare spontaneous attacks. These reflex attacks consisted of isolated muscle jerks or clusters of up to eight symmetric limb jerks affecting mainly the arms. Five of the children had a family history of epilepsy or febrile convulsions. Myoclonic attacks disappeared in 4-14 months. In 3 patients, the jerks stopped spontaneously; the others responded to valproate (VPA). Myoclonus could be elicited in wakefulness and in sleep. Ictal EEGs showed brief generalized spike- or polyspike-and-wave discharges. Interictal EEGs were normal during wakefulness; during sleep, brief generalized discharges were evident. We propose that reflex myoclonic epilepsy of infancy (RMEI) is a new age-dependent idiopathic generalized epileptic (IGE) syndrome, with an apparently good prognosis.
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PMID:Reflex myoclonic epilepsy in infancy: a new age-dependent idiopathic epileptic syndrome related to startle reaction. 760 11

To determine the recurrence risk of West syndrome (WS), we studied the familial antecedents of consecutively referred patients. Among siblings, there was an increased incidence of WS but not of febrile convulsions. Familial incidence of epilepsy was intermediate between the epileptic and nonepileptic control groups. When cases resulting from a genetically determined disease were excluded, incidence of epilepsy among siblings was similar to that in normal controls. Five of the 11 familial cases of WS were due to an identifiable cause: twin pregnancy, tuberous sclerosis, and recurrent maternal toxemia. In 4 of the remaining families, the clinical picture included spasms, erratic myoclonus, and postnatal microcephaly, suggestive of a previously unidentifiable progressive encephalopathy. Therefore, when identifiable familial diseases were excluded, the recurrence risk was < 1%.
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PMID:Genetic predisposition to West syndrome. 833 May 85

Severe myoclonic epilepsy in infants (SME) is one of the most malignant epileptic syndromes recognized in the latest classification of epileptic syndromes. The clinical details and electroencephalographic (EEG) characteristics have been elucidated by Dravet et al. The diagnosis of SME depends largely on the combination of clinical and EEG manifestations at different ages, of which the presence of myoclonic seizures appears to be the most important. However, because of the inclusion of different types of myoclonic attack and the lack of strict criteria for diagnosing SME, there has been some confusion as to whether patients without myoclonic seizures or myoclonus should be classified as SME, despite other identical clinical symptoms (SME borderlands (SMEB) group). Among the various clinical manifestations characterizing SME, special attention has been paid to seizures easily precipitated by fever and hot baths in Japan. We have demonstrated that the onset of myoclonic attack in these patients is very sensitive to the elevation of body temperature itself rather than its etiology. Using simultaneous EEG and rectal temperature monitoring during hot water immersion, we showed that epileptic discharges increased in frequency, and eventually developed into seizures at temperatures over 38 degrees C. We believe that the unique fever sensitivity observed in SME is similar to, but more intense than that of febrile convulsions. We have also identified a group of cases who have had innumerous myoclonic and atypical absence seizures daily which were sensitive to the constant bright light illumination. In these cases, spike discharges increased or decreased depending on the intensity of constant light illumination. Although these cases form the most resistant SME group, they lost the constant light sensitivity with increasing age, leaving only relatively common types of fever-sensitive grand mal seizures (FSGM) at the age of around 5 years. In the long run, only convulsive seizures continue, while myoclonic or absence seizures and photosensitivity disappear with advancing age, thus it is conceivable that SMEB constitutes a basic epileptic condition underlying SME. There is a clinical continuum that extends from the mildest end of SMEB to the severest end of SME with constant light sensitivity, with intermediates of frequent or infrequent myoclonic and absence seizures in-between. This spectrum concept appropriately explains the clinical variabilities between SME and SMEB during early childhood.
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PMID:Severe myoclonic epilepsy in infants--a review based on the Tokyo Women's Medical University series of 84 cases. 1170 Dec 88

Epilepsy affects more than 0.5% of the world's population and has a large genetic component. The most common human genetic epilepsies display a complex pattern of inheritance and the susceptibility genes are largely unknown. However, major advances have recently been made in our understanding of the genetic basis of monogenic inherited epilepsies. Progress has been particularly evident in familial idiopathic epilepsies and in many inherited symptomatic epilepsies, with the discovery that mutations in ion channel subunits are implicated, and direct molecular diagnosis of some phenotypes of epilepsy is now possible. This article reviews recent progress made in molecular genetics of epilepsy, focusing mostly on idiopathic epilepsy, and some types of myoclonus epilepsies. Mutations in the neuronal nicotinic acetylcholine receptor alpha4 and beta2 subunit genes have been detected in families with autosomal dominant nocturnal frontal lobe epilepsy, and those of two K(+) channel genes were identified to be responsible for underlying genetic abnormalities of benign familial neonatal convulsions. The voltage-gated Na(+) -channel (alpha1,2 and beta1 subunit), and GABA receptor (gamma2 subunit) may be involved in the pathogenesis of generalized epilepsy with febrile seizure plus and severe myoclonic epilepsy in infancy. Mutations of Ca(2+)-channel can cause some forms of juvenile myoclonic epilepsy and idiopathic generalized epilepsy. Based upon these findings, pathogenesis of epilepsy as a channelopathy and perspectives of molecular study of epilepsy are discussed.
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PMID:Genetics of epilepsy: current status and perspectives. 1220 89

Genetic factors are likely to play a major role in many epileptic conditions, spanning from classical idiopathic (genetic) generalized epilepsies to epileptic encephalopathies and focal epilepsies. In this review we describe the genetic advances in progressive myoclonus epilepsies, which are strictly monogenic disorders, genetic generalized epilepsies, mostly exhibiting complex genetic inheritance, and SCN1A-related phenotypes, namely genetic generalized epilepsy with febrile seizure plus and Dravet syndrome. Particular attention is devoted to a form of familial focal epilepsies, autosomal-dominant lateral temporal epilepsy, which is a model of non-ion genetic epilepsies. This condition is associated with mutations of the LGI1 gene, whose protein is secreted from the neurons and exerts its action on a number of targets, influencing cortical development and neuronal maturation.
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PMID:Genetics of epilepsy and relevance to current practice. 2261 27