Centrencephalic myoclonic-astatic petit mal. Clinical and genetic investigation.
About: This article is published in Neuropediatrics.The article was published on 1970-08-01. It has received 185 citations till now. The article focuses on the topics: Myoclonic astatic epilepsy.
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TL;DR: Knowing of an expanded spectrum of epileptic encephalopathies associated with SCN1A mutations allows earlier diagnostic confirmation for children with these devastating disorders, including cryptogenic generalized epilepsy and cryptogenic focal epilepsy.
Abstract: The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in the sodium channel alpha 1 subunit gene SCN1A is well established. To explore the phenotypic variability associated with SCN1A mutations, 188 patients with a range of epileptic encephalopathies were examined for SCN1A sequence variations by denaturing high performance liquid chromatography and sequencing. All patients had seizure onset within the first 2 years of life. A higher proportion of mutations were identified in patients with SMEI (52/66; 79%) compared to patients with SMEB (25/36; 69%). By studying a broader spectrum of infantile epileptic encephalopathies, we identified mutations in other syndromes including cryptogenic generalized epilepsy (24%) and cryptogenic focal epilepsy (22%). Within the latter group, a distinctive subgroup designated as severe infantile multifocal epilepsy had SCN1A mutations in three of five cases. This phenotype is characterized by early onset multifocal seizures and later cognitive decline. Knowledge of an expanded spectrum of epileptic encephalopathies associated with SCN1A mutations allows earlier diagnostic confirmation for children with these devastating disorders.
488 citations
Cites background from "Centrencephalic myoclonic-astatic p..."
...Myoclonic–astatic epilepsy (MAE) referred to individuals with myoclonic–astatic seizures and other generalized seizure types with generalized spike-wave activity and variable developmental outcome (Doose et al., 1970; Guerrini et al., 2005)....
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TL;DR: The ability to identify large families with this newly recognized common, childhood‐onset, generalized genetic epilepsy syndrome suggests that it should be a prime target for attempts to identify genes relevant to FS and generalized epilepsy.
Abstract: We examined the phenotypic variation and clinical genetics in nine families with generalized epilepsy with febrile seizures plus (GEFS+). This genetic epilepsy syndrome with heterogeneous phenotypes was hitherto described in only one family. We obtained genealogical information on 799 individuals and conducted detailed evaluation of 272 individuals. Ninety-one individuals had a history of seizures and 63 had epilepsy consistent with the GEFS+ syndrome. Epilepsy phenotypes were febrile seizures (FS) in 31, febrile seizures plus (FS+) in 15, FS+ with other seizure types (atonic, myoclonic, absence, or complex partial) in 8, and myoclonic-astatic epilepsy in 9 individuals. Inheritance was autosomal dominant with approximately 60% penetrance. This study confirms and expands the spectrum of GEFS+ and provides new insights into the phenotypic relationships and genetics of FS and the generalized epilepsies of childhood. Moreover, the ability to identify large families with this newly recognized common, childhood-onset, generalized genetic epilepsy syndrome suggests that it should be a prime target for attempts to identify genes relevant to FS and generalized epilepsy.
288 citations
TL;DR: The severe nature and intractability of LGS emphasizes the need for the development of specific AEDs which would completely modify the quality of life for these patients, including specific generalized epilepsies arising from the frontal lobe.
Abstract: One of the most challenging areas in nosology is in the field of severe generalized epilepsy of early childhood. This is certainly true in the case of Lennox-Gastaut syndrome (LGS), an age-related epileptogenic encephalopathy which comprises several types of generalized seizures including tonic seizures, atypical absence seizures and frequent status epilepticus. EEG shows generalized slow spike waves, and as the disease progresses, cognitive functions deteriorate. LGS is listed in the 1989 classification of the International League Against Epilepsy alongside epilepsy with myoclonic astatic seizures and West's syndrome. A number of variants or atypical forms have been proposed. As a result, differential diagnosis presents a major challenge and includes specific generalized epilepsies, i.e., metabolic or inflammatory; secondarily generalized epilepsies, i.e., those arising from the frontal lobe; and severe forms of idiopathic generalized epilepsy, i.e., Doose syndrome. Antiepileptic drug (AED) treatment of LGS has been disappointing. Results obtained from anterior callosotomy have been promising, but only a small number of patients have been evaluated. Although the syndrome is rare, the severe nature and intractability of LGS emphasizes the need for the development of specific AEDs which would completely modify the quality of life for these patients.
227 citations
Cites background from "Centrencephalic myoclonic-astatic p..."
...Most causes of West’s syndrome may also cause LGS. Major malformations such as Aicardi syndrome or lissencephaly, are not causes of LGS (Aicardi, 1986)....
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...…these patients experienced a favorable outcome, the remaining children were left with persisting tonic seizures during sleep; the authors stressed that tonic seizures were only present late in the course of the disease in those patients with an unfavorable outcome (Kruse, 1968; Doose et al., 1970)....
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...Second, some authors have produced a mixture of definitions, such as Jeavons (1977) describing myoclonic-astatic epilepsy as LGS....
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...Differential diagnosis is the most challenging aspect of LGS....
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...There is no effective AED available for the treatment of LGS. Intractability inevitably leads to polypharmacy with an eventual decrease of vigilance resulting in a paradoxical increase of seizure frequency....
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TL;DR: An attempt is made to clarify the confusion over the classification of the myoclonic epilepsies of childhood, with six types of seizure being described, the classification being based on clinical and electroencephalographic findings.
Abstract: SUMMARY
An attempt is made to clarify the confusion over the classification of the myoclonic epilepsies of childhood. Six types of seizure are described, the classification being based on clinical and electroencephalographic findings. The types of myoclonic epilepsy are infantile spasms, myoclonic astatic epilepsy, myoclonic absence, myoclonic epilepsy of childhood, myoclonic epilepsy of adolescence and photomyoclonic epilepsy, the last being subdivided into myoclonic jerks and eyelid myoclonia. Synonyms are given for all types, based on the major papers in the literature over the last 16 years. The similarity of infantile spasms and myoclonic astatic epilepsy is discussed, as are the so-called ‘Lennox’ and ‘Lennox-Gastaut’ syndromes.
RESUME
Problemes nosologiques des epilepsies myocloniques de l'enfance et de l'adolescence
Une tentative est faite de clarifier la classification des epilepsies myocloniques de l'enfance. Six types de crises sont decrites, la classification etant basee sur les donnees cliniques et electroencephalographiques. Les types d'epilepsies myocloniques sont les spasmes infancies, l'epilepsie myoclonique astatique, l'absence myoclonique, l'epilepsie myoclonique de l'enfance, l'epilepsie myoclonique de l'adolescence et l'epilepsie photomyoclonique, cette derniere etant subdivisee en secousses myocloniques et myoclonic des paupieres. Des synonymes sont indiques pour tous les types a partir des articles principaux de la litterature des 16 dernieres annees. L'identification des spasmes infantiles et de l'epilepsie myoclonique astatique est discutee comme le sont les syndromes dits de ‘Lennox’ et de ‘Lennox-Gastaut’.
ZUSAMMENFASSUNG
Nosologische Probleme myoklonischer Epilepsie bei Kindern und Heranwachsenden
Es wird der Versuch unternommen, die Unklarheiten bei der Klassifizierung der myo-klonischen Epilepsien des Kindesalters zu beseitigen. Sechs Anfallstypen werden beschrieben, wobei die Klassifizierung auf klinischen und elektroencephalographischen Befunden basiert. Die Typen der myoklonischen Epilepsie sind: BNS-Krampfe, myoklonisch-astatisches Anfallsleiden, myoklonische Absencen, myoklonische Epilepsie im Kindesalter, myoklonische Epilepsie im fruhen Erwachsenenalter und photosensible myoklonische Epilepsie, die letztere wird noch unterteilt in myoklonische Anfalle und Augenlidmyo-klonien. Fur alle Typen werden Synonyma angegeben, die der einschlagigen Literatur der letzten 16 Jahre entnommen wurden. Es wird uber die Ahnlichkeit der BNS-Krampfe mit den myoklonisch-astatischen Anfallen diskutiert, sowie uber die sogenannten ‘Lennox’ und ‘Lennox-Gastaut’ Syndrome.
RESUMEN
Problemas nosologicos de las epilepsias mioclonicas de la infancia y adolescencia
Se hace un intento para clarificar la confusion sobre la clasificacion de las epilepsias mioclonicas en la infancia. Se describen seis tipos de crisis, cuya clasificacion esta basada en los hallazgos clinicos y electroencefalograficos. Los tipos de epilepsia mioclonica son espasmos infantiles, epilepsia mioclonica astatica, ausencia mioclonica, epilepsia mioclonica de la infancia, epilepsia mioclonica de la adolescencia y epilepsia fotomioclonica, siendo esta ultima subdividida en sobresaltos mioclonicos y mioclonia de parpados. Se dan sinonimos para todos los tipos, basados en las comunicaciones mas importantes de la literature de los ultimos dieciseis anos. Se discute la similitud de los espasmos infantiles y la epilepsia mioclonica astatica, como son los sindromes llamados de ‘Lennox’ y ‘Lennox-Gastaut’.
179 citations
TL;DR: This review attempts to summarize what is known about the distribution, etiology, and natural history of infantile spasms in populations; discusses the limitations of current data; and includes suggestions for further population-based research.
Abstract: Few population-based studies of infantile spasms have been done, and most reports have not included comparison groups. In spite of these limitations, this review attempts to summarize what is known about the distribution, etiology, and natural history of infantile spasms in populations; discusses the limitations of current data; and includes suggestions for further population-based research. Most estimates of the incidence of infantile spasms are between 0.25 and 0.42 per 1000 live births per year. Among children less than 10 years of age, the annual prevalence of infantile spasms is 0.14 to 0.19 per 1000. The peak age at onset of spasms is 4 to 6 months, and there appears to be a slight excess of male cases. The etiology of infantile spasms is unknown for 40% to 50% of affected children. Selected syndromes (eg, Aicardi syndrome, Down syndrome, etc) and inherited disorders (eg, tuberous sclerosis) may account for as many as one third of cases. Other factors, such as intrauterine infection, "birth injury," and head trauma have not been systematically evaluated, and thus, their contribution to the etiology of infantile spasms is uncertain. Areas for future etiologic research include controlled studies of immunologic factors and in utero and postnatal infections and further exploration of the interrelationship between infantile spasms and Lennox-Gastaut syndrome.
178 citations