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• W2019696585 abstract "Severe myoclonic epilepsy in infancy (SMEI) is a genetically determined severe epileptic encephalopathy that was first described by Charlotte Dravet in 19781 and was included in the 1989 ILAE classification.2 In the 1989 classification, SMEI is grouped with ‘epilepsies and syndromes undetermined as to whether they are focal or generalised’ since the syndrome includes generalised and focal seizures. This syndrome begins in the first year of life, typically with complex febrile or afebrile generalised or unilateral clonic or tonic-clonic seizures, usually prolonged, in an otherwise normal infant. Subsequently between 1 and 4 years of age, the condition evolves to other type of seizures such as myoclonic seizures (MS), atypical absence seizures (AAS), complex partial (focal) seizures (CPS) and frequent status epilepticus (SE) in association with developmental delay, cognitive dysfunction and behavioural problems. Fever, even if mild, is an important seizure trigger factor but some cases are provoked by a non-febrile illness, immunization or a hot environment. Photic and pattern stimulation can also precipitate generalised spike-wave discharges (GSWDs) associated with MS and absences. Since the initial report, many children with similar clinical phenotypes, different EEG features, and the same progression as the cases with myoclonias have been reported in which MS are absent. The group with different seizure types is designated as ‘borderline SME (SMEB)’, and that with generalised tonic-clonic seizures (GTC) only as ‘idiopathic generalised epilepsy GTC (IGEGTC)’. Thus in order to include all groups, the eponymous term ‘Dravet syndrome (DS)’ was introduced by the ILAE task force in 2001, 2006 and the latest Commission Report in 2010.3 The prevalence of DS is approximately 3 to 6% of epilepsy cases and the incidence is <1 per 40 000 infants.4 In 2001, the genetic cause was allocated to the SCN1A gene.5 More than 70% of SMEI phenotypes are associated with SCN1A mutations, and by including SMEB and IGE-GTC, approximately 90% of persons with DS have a SCN1A mutation. The majority of these mutations are nonsense, frameshift, SCN1A deletions, amplifications and duplications.6 The fact that almost half the cases of SMEI have a positive family history of febrile seizures and that the majority of the SCN1A mutations are de novo raised the possibility of other mutations being involved. Indeed, in a few cases, mutations in the PCDH19 and SCN1B genes are found. DS is one of the most severe forms of childhood epilepsy. The main seizure types in the majority of cases are: febrile clonic seizures in infancy, followed by MS, AAS and CPS. Tonic seizures are exceptional. Episodes of SE are common. Febrile clonic seizures, either unilateral or bilateral, characterise the first silent period when the child appears developmentally normal. Similar seizures also occur during non-febrile illness. The EEG during this period is usually normal but may show generalised photoparoxysmal responses (PPR) during intermittent photic stimulation (IPS) or some slow discontinuous symmetrical or asymmetrical patterns. This initial silent period is followed by the most aggressive period during late infancy and childhood. MS occur in at least 80% of cases and may be symmetrical, asymmetrical or massive, leading to hurling of objects held by the child and to falling. AAS are associated with moderate impairment of consciousness, conspicuous or inconspicuous, and may or may not be combined with MS. The concomitant EEG findings are GSW and multiple SWDs 2 to 3.5Hz on a diffuse theta and delta background activity. Simple or CPS associated with autonomic symptoms occurred in more than half the cases. The CPS were characterised by autonomic symptoms or automatisms, hypotonia and mild eyelid and limb jerking. The EEG is characterised by focal or multifocal sharp or spike slow wave activities. A positive response to IPS was observed in at least 40% of cases but did not persist in almost 95% of cases. In order to better analyse the clinical EEG phenomena, a sleep-wake video-polygraphy recording after sleep deprivation is needed. It makes possible to identify many mild, inconspicuous myoclonic or absence seizure events that are associated them with the concomitant EEG discharges. During the second aggressive phase the child starts losing attained normal milestones and his psychomotor delay becomes progressively apparent. The child develops obvious learning difficulties, becomes ataxic, hyperkinetic and in some cases also develops pyramidal signs. The aggressive period is followed by a more static third period where the seizures become less frequent but persist. Cognitive and neurological impairment are irreversible. Mortality rate is high. The sequence of events in DS is characteristic and offer reliable clues to the diagnosis. The initial diagnosis of febrile seizures (FS) and/or subsequent FS plus can easily be excluded on the basis of polymorphic seizures and the mental and physical decline that accompany DS. The myoclonic epilepsy in infancy as described by Dravet is characterised by brief, generalised MS in association with GSWDs on the EEG without any focal or slow background activity. The early Lennox–Gastaut syndrome usually starts at a later age in children with pre-existing neurological deficit with axial tonic seizure, AAS and drop attacks. Recurrent FS in the first year of life are missing. In epilepsy with myoclonic astatic seizures (MAS), early-onset seizures triggered by fever do occur, but the MAS becomes the main seizure type, and focal seizures and EEG abnormalities are not usually observed. Progressive myoclonic epilepsies, particularly neuronal ceroid lipofuscinosis, should be ruled out on the basis of absent visual disturbances; normal fundus; no positive response to IPS at low frequencies (1 to 2Hz); and normal biological investigations. Mitochondrial encephalomyopathy is excluded by the normal serum and cerebrospinal fluid lactate, and if needed, by muscle biopsy. The progress in genetics parallels the attempts to identify better therapeutic schemes in focusing on clinical seizures and EEG discharges for a better quality of life for the children and the family. In DS the multiple seizure types are resistant to most antiepileptic drugs (AEDs). The use of ‘rational multitherapy’ follows Hippocrates’ oath: ‘First do no harm!’ by using the appropriate drugs step-wise until better seizure control is reached or side effects occur. The cause of seizures in DS is the loss of function in voltage-gated sodium channels localized in GABAergic neurons. Hence, drugs that are sodium channel blockers are contraindicated, such as carbamazepine, oxcarbazepine, phenytoin, lamotrigine, eslicarbazepine and vigabatrin. The following antiepileptic drugs may benefit children with DS: valproic acid, topiramate, stiripentol, clobazam, levetiracetam and zonisamide. A ketogenic diet is beneficial in some cases. Intravenous gamma globulin helps by reducing the frequency of various febrile or nonfebrile illnesses. Stiripentol, a direct allosteric modulator of GABA receptors7 that also inhibits enzymes that metabolize other AEDs, in combination with valproic acid and clobazam, as well as topiramate give encouraging results.8 Honorarium as Chairperson (BIOCODEX)." @default.
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• W2019696585 date "2011-04-01" @default.
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• W2019696585 title "Update on Dravet syndrome" @default.
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• W2019696585 doi "https://doi.org/10.1111/j.1469-8749.2011.03963.x" @default.
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