Severe Myoclonic Epilepsy in Infancy – Adult Phenotype with Bradykinesia, Hypomimia, and Perseverative Behavior: Report of Five Cases

Martin, Peter; Rautenstrauβ, B.; Schöser, Benedikt; Fahrbach, J.; Köster, S.

doi:10.1159/000326746

Cited by 18 publications

(13 citation statements)

References 56 publications

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“…In our two cohorts, in line with previous reports, in the large majority of patients, language is impaired (84% of adults) and ID is moderate or severe (70.5% of adolescents and 80% of adults); normal cognitive functioning, as exceptionally reported was observed in 1 of 24 adolescents and 3 of 50 adults. Also in keeping with previous reports is the relevance of motor disturbances that are present in 65% of adolescents and in 88% of adults, with crouch gait in one‐third of cases . The most severe cognitive and motor impairment was observed in patients with persisting seizures .…”

Section: Discussionsupporting

confidence: 89%

Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults

et al. 2019

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To describe the outcome of Dravet syndrome (DS) in adolescents and adults we conducted a longitudinal retrospective study of two independent cohorts of 34 adolescents (group 1) and 50 adults (group 2). In both cohorts, we collected information about genetic mutation, and semiology of seizures at onset and during disease course.At the last evaluation, we considered the following features: epilepsy (distinguishing myoclonic/complete and nonmyoclonic/incomplete phenotype), neurologic signs, intellectual disability (ID), and behavioral disorders. Moreover, in both cohorts, we performed a correlation analysis between early characteristics of the disease and the outcome of DS with regard to seizure persistence, ID, behavioral disorder, and neurologic impairment at last evaluation. Group 1 includes 22 adolescents with complete form of DS and 12 with incomplete form; group 2 includes 35 adults with complete form and 15 with incomplete form. The seizures persisted in 73.6% of adolescents and in 80% of adults, but epilepsy severity progressively decreased through age.Seizure persistence correlated with the complete phenotype and with the occurrence of reflex seizures. At last evaluation, ID was moderate or severe in 70.5% of adolescents and in 80% of adults. The most severe cognitive and motor impairment was observed in patients with persisting seizures. The severity of cognition, language, and neurologic impairment at last evaluation correlated statistically with the complete phenotype. The study confirms that the global outcome of DS is poor in most cases, albeit epilepsy severity decreases throughout adulthood. The improvement of epilepsy throughout ages is not associated with improvement in intellectual abilities and motor skills; this confirms that the unfavorable outcome is not a pure consequence of epilepsy. K E Y W O R D Sadolescents and adults, complete Dravet syndrome, developmental and epileptic encephalopathy, longterm outcome, myoclonic phenotype, reflex seizures S50 | DARRA et Al.

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Section: Discussionsupporting

confidence: 89%

Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults

et al. 2019

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“…The main challenges include seizure control, prevention of status epilepticus and optimizing development of cognitive function, where possible. The adult phenotype has been described in a number of previous studies 2, 5, 6, 7, 8. Adjustment of treatment may be associated with improved seizure control, cognition and quality of life, even into later adult life 2, 6.…”

Section: Introductionmentioning

confidence: 92%

Audit of use of stiripentol in adults with Dravet syndrome

Balestrini

Sisodiya

2016

Acta Neurol Scand

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ObjectivesThere are very few data available in the literature on the use of stiripentol in adults with Dravet syndrome (DS). DS cases are increasingly recognized in adulthood, and more children with DS now survive to adulthood. The aim of the study was to document the effectiveness and tolerability of stiripentol in adults with DS.Material and methodsWe conducted an observational clinical audit in the epilepsy service of the National Hospital for Neurology and Neurosurgery, London (UK).ResultsWe included 13 adult subjects with DS (eight females, five males). The responder (defined as more than 50% reduction in all seizure types) rate was 3/13 (23%) at 36 months. The following other outcomes were reported: seizure exacerbation (3/13, 23%), no change (3/13, 23%), less than 50% reduction in seizures (2/13, 15%), more than 50% reduction in generalized tonic‐clonic seizures but no other seizure types (1/13, 8%), undefined response (1/13, 8%). The retention rate was 62% after 1 year and 31% after 5 years. Adverse effects were reported in 7/13 (54%): the most frequent were anorexia, weight loss, unsteadiness and tiredness. Withdrawal due to adverse effects occurred in 3/13 (23%).ConclusionsCompared with previous studies on children with DS, our results show a lower responder rate and a similar tolerability profile. Stiripentol can be effective with a good tolerability profile. Our audit is small, but supports the use of stiripentol in adults with DS when first‐line treatments are ineffective or not tolerated, in keeping with published guidelines.

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“…Generalized and multifocal abnormalities are seen in the electroencephalography. Starting as early as the second year of life, DS children develop comorbid conditions such as psychomotor regression, motor disorder, abnormal sleep microarchitecture, and intellectual disability ( Nolan et al, 2006 ; Martin et al, 2010 ; Dhamija et al, 2014 ). The risk for premature death is also high in this patient population ( Genton et al, 2011 ).…”

Section: Introductionmentioning

confidence: 99%

Behavioral Comorbidities and Drug Treatments in a Zebrafishscn1labModel of Dravet Syndrome

Grone

Baraban

2017

eNeuro

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Loss-of-function mutations in SCN1A cause Dravet syndrome (DS), a catastrophic childhood epilepsy in which patients experience comorbid behavioral conditions, including movement disorders, sleep abnormalities, anxiety, and intellectual disability. To study the functional consequences of voltage-gated sodium channel mutations, we use zebrafish with a loss-of-function mutation in scn1lab, a zebrafish homolog of human SCN1A. Homozygous scn1labs552/s552 mutants exhibit early-life seizures, metabolic deficits, and early death. Here, we developed in vivo assays using scn1labs552 mutants between 3 and 6 d postfertilization (dpf). To evaluate sleep disturbances, we monitored larvae for 24 h with locomotion tracking software. Locomotor activity during dark (night phase) was significantly higher in mutants than in controls. Among anticonvulsant drugs, clemizole and diazepam, but not trazodone or valproic acid, decreased distance moved at night for scn1lab s552 mutant larvae. To monitor exploratory behavior in an open field, we tracked larvae in a novel arena. Mutant larvae exhibited impaired exploratory behavior, with increased time spent near the edge of the arena and decreased mobility, suggesting greater anxiety. Both clemizole and diazepam, but not trazodone or valproic acid, decreased distance moved and increased time spent in the center of the arena. Counting inhibitory neurons in vivo revealed no differences between scn1lab s552 mutants and siblings. Taken together, our results demonstrate conserved features of sleep, anxiety, and movement disorders in scn1lab mutant zebrafish, and provide evidence that a zebrafish model allows effective tests of treatments for behavioral comorbidities associated with DS.

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Severe Myoclonic Epilepsy in Infancy – Adult Phenotype with Bradykinesia, Hypomimia, and Perseverative Behavior: Report of Five Cases

Cited by 18 publications

References 56 publications

Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults

Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults

Audit of use of stiripentol in adults with Dravet syndrome

Behavioral Comorbidities and Drug Treatments in a Zebrafishscn1labModel of Dravet Syndrome

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