content:dravet_syndrome

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content:dravet_syndrome [2020/02/23 19:55]
icna [Epilepsy surgery]
content:dravet_syndrome [2020/02/24 06:09] (current)
icna
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   * Interim interim analysis of the safety, efficacy, and patient-reported outcomes from GWPCARE5 showed that long-term CBD treatment had an acceptable safety profile and led to sustained, clinically meaningful reductions in seizure frequency in patients with treatment-resistant DS[(:​cite:​30582156>​{{pubmed>​30582156}})].   * Interim interim analysis of the safety, efficacy, and patient-reported outcomes from GWPCARE5 showed that long-term CBD treatment had an acceptable safety profile and led to sustained, clinically meaningful reductions in seizure frequency in patients with treatment-resistant DS[(:​cite:​30582156>​{{pubmed>​30582156}})].
 ===== Differential Diagnoses ===== ===== Differential Diagnoses =====
-There are several differential diagnoses in Dravet syndrome +  * [[Febrile Seizures]] (FS) 
- +    * At the very onset FS is the main differential 
-Febrile Seizures (FS) – At the very onset FS is the main differentialIn an infant ​less than 1 year, with a family history, the occurrence of long and repeated FS leads one to suspect the diagnosis of SME, mainly when the triggering fever is not high. However, it cannot be confirmed until other seizure types and myoclonic jerks occur, or one records spike-waves resulting from photostimulation. +    * In an infant ​under 1 year, with a family history, the occurrence of long and repeated FS leads one to suspect the diagnosis of SME, mainly when the triggering fever is not high. 
- +    * However, it cannot be confirmed until other seizure types and myoclonic jerks occur, or one records spike-waves resulting from photostimulation. 
-Generalized epilepsy with febrile seizures plus (GEFS+) ​- Characterised by febrile seizures (or FS+) in early childhoodfollowed by occasional tonic, clonic, myoclonic, or absence seizures ​which respond to medication and remit by late childhood or early adolescence. ​The proportion ​of children with GEFS+ whose first seizure ​occurs ​in the context of immunization ​appears to be greater than the proportion of children ​with febrile seizures unrelated to FS+ and GEFS+. +  * [[Generalized epilepsy with febrile seizures plus]] (GEFS+) 
- +    * febrile seizures (or FS+) in early childhood 
-Benign myoclonic epilepsy (BME) - The diagnostic of BME is based on two major features: ​onset by brief, generalized myoclonic attacks, which represent the only ictal manifestation in a child with generalized spike-waves on the EEG without any focal abnormality. Even when FS are also present, they are always simple and infrequent. +    * followed by occasional tonic, clonic, myoclonic, or absence seizures 
- +    * respond to medication and remit by late childhood or early adolescence. 
-[[Lennox Gastuat Syndrome]] (LGS) - The early LGS is completely different. The occurrence of repeated FS in the first year virtually eliminates this diagnosis. LGS starts later, in a more variable way, and often in children with preexisting brain lesions. It essentially consists of atypical absences, drop attacks, and axial tonic seizures (which are exceptional in SME), even if they are associated with myoclonias in the myoclonic variant. ​The EEGs always show diffuse slow spike-waves,​ grouped in bursts, and specific features during sleep where there is no photosensitivity. +    * increased incidence ​of first seizure in the context of immunization ​compared ​with febrile seizures unrelated to FS+ and GEFS+. 
- +  * [[Benign myoclonic epilepsy]] (BME) 
-Epilepsy with MAE ([[Myoclonic Astatic Epilepsy]]) or [[Doose Syndrome]]– SME might be difficult to differentiate from MAE, a classification category in which children first seen with early-onset generalized convulsive seizures triggered by fever are also included.. +    * onset by brief, generalized myoclonic attacks, which represent the only ictal manifestation in a child 
- +    * associated ​with generalized spike-waves on the EEG without any focal abnormality 
-Although the onset is very similar to that of SME, the course is different, with myoclonic-astatic seizures becoming a major feature, and the absence of any focal clinical or EEG manifestation. Patients with SME do not have recurrent drop attacks+    * FS when present are always simple and infrequent. 
- +  ​* ​[[Lennox-Gastuat Syndrome]] (LGS) 
-[[Progressive Myoclonus Epilepsy]] (PME) -The course of SME in its second stage could resemble a progressive metabolic disease mainly the neuronal ceroid lipofuscinoses. The absence of visual disturbances,​ of abnormalities ​of the fundus, of the peculiar response to IPS in the EEGs, and the negative results of biological investigations eliminate this diagnosis. Moreover, ​in later childhood and adolescence there is no further deterioration and the patients present rather a picture of a static encephalopathy. +    * atypical absences, drop attacks, and axial tonic seizures (which are exceptional in SME), even if they are associated with myoclonias in the myoclonic variant. 
- +    * EEGs always show diffuse slow spike-waves,​ grouped in bursts, and specific features during sleep where there is no photosensitivity. 
-A [[mitochondrial encephalomyopathy with ragged red fibers]] (MERRF) should be eliminated in the most severe cases by CSF lactate and by muscle biopsies. +    * Lennox‐Gastaut syndrome is virtually excluded by a history of febrile clonic seizures in the first year of life 
- +  ​* ​Epilepsy with MAE ([[Myoclonic Astatic Epilepsy]]) or [[Doose Syndrome]] 
-Early cryptogenic focal epilepsies. - An early cryptogenic focal epilepsy ​may have the same onset with FS rapidly progressing to focal seizures. These patients ​will not present atypical absences and myoclonic jerks in the later course, but the diagnosis may remain uncertain for some months. Besides ​focal epilepsy is unlikely when the partial motor seizures affect different parts of the body and when the hemiclonic seizures are alternating. +    ​* ​onset is very similar to that of SME 
- +    * but course is different, with myoclonic-astatic seizures becoming a major feature, and the absence of any focal clinical or EEG manifestation 
-**Severe myoclonic epilepsy, borderline (SMEB)** +    * recurrent drop attacks ​are not seen 
-Several cases have been reported by different authors with a similar picture to that of SMEI, but without appearance of myoclonias, designated as "​peripheral"​ or "​borderline"​ SME (SMEB).The most important problem arises when the onset and the course of SME are atypical. +  ​* ​[[Progressive Myoclonus Epilepsy]] (PME) 
- +    * SME in second stage could resemble a progressive metabolic disease mainly the neuronal ceroid lipofuscinoses 
-However often most of the patients who do not present with myoclonic seizures have an interictal segmental myoclonus, which disturbs their motor abilities. Besides ​in some children, the myoclonias are rare and detectable ​only by accurate examination and Video EEG recordings. In some others, ​myoclonic seizures ​can be observed and recorded only when convulsive seizures are frequent, just before they start. +    * absence of visual disturbances, ​absence ​of fundal ​abnormalities, ​absence ​of posterior‐evoked potentials elicited by the [[intermittent photic stimulation]] (IPS) low frequencies, and the negative results of biological investigations eliminate this diagnosis 
- +    * in later childhood and adolescence there is no further deterioration and the patients present rather a picture of a static encephalopathy. 
-The main characteristics of the SMEB are considered ​to be: no atypical absences, either few EEG epileptic abnormalities,​ or only occasional multifocal or diffuse spike-waves during the first stage of the disease, and rare photosensitivity. All the other features are similar, including the bad prognosis and the high rate of early mortality+  ​* ​Early cryptogenic focal epilepsies 
- +    * may have the same onset with FS rapidly progressing to focal seizures 
-More than 70% of patients with SMEB carry SCN1A mutations that are spread throughout the gene with a mixture of mutations including truncating, missense, and splice-site changes +    * will not present atypical absences and myoclonic jerks in the later course, but the diagnosis may remain uncertain for some months 
- +    * focal epilepsy is unlikely when the partial motor seizures affect different parts of the body and when the hemiclonic seizures are alternating. 
-[[High-voltage slow-wave–grand-mal syndrome]] (HVSW-GM) - Seino and Higashi (1978)[(:​cite:​seino1978>​Seino M, Higashi T. The investigation on a group of secondary generalized epilepsy in childhood with onset in infancy and refractory grand mal. In: Kimura M, ed. Mental and physical disability research group sponsored by Ministry of Health and Welfare. Report of research group of children'​s health and environment. 1978:​79–80)] reported on a group of patients with refractory epilepsy in childhood characterized by predominant generalized tonic clonic seizures and Wada et al. (88) proposed to name it "​high-voltage slow-wave–grand-mal syndrome (HVSW-GM)."​+  ​* ​**Severe myoclonic epilepsy, borderline (SMEB)** 
 +    * no atypical absences, either few EEG epileptic abnormalities,​ or only occasional multifocal or diffuse spike-waves during the first stage of the disease, and rare photosensitivity. 
 +    * similar picture to that of SMEI, but without appearance of myoclonias, designated as "​peripheral"​ or "​borderline"​ SME (SMEB) 
 +      ​* ​most patients who do not present with myoclonic seizures have an interictal segmental myoclonus ​affecting ​motor abilities 
 +      * myoclonias are rare in some children and can be detected ​only by accurate examination and video telemetry 
 +      * myoclonic seizures ​are sometimes ​observed and recorded only when convulsive seizures are frequent, just before they start 
 +    * similar ​to SME in terms of prognosis and high rate of early mortality 
 +    ​* ​More than 70% of patients with SMEB carry SCN1A mutations that are spread throughout the gene with a mixture of mutations including truncating, missense, and splice-site changes 
 +  ​* ​[[High-voltage slow-wave–grand-mal syndrome]] (HVSW-GM) - Seino and Higashi (1978)[(:​cite:​seino1978>​Seino M, Higashi T. The investigation on a group of secondary generalized epilepsy in childhood with onset in infancy and refractory grand mal. In: Kimura M, ed. Mental and physical disability research group sponsored by Ministry of Health and Welfare. Report of research group of children'​s health and environment. 1978:​79–80)] reported on a group of patients with refractory epilepsy in childhood characterized by predominant generalized tonic clonic seizures and Wada et al. (88) proposed to name it "​high-voltage slow-wave–grand-mal syndrome (HVSW-GM)."​
  
 The criteria for this syndrome are generalized and/or unilateral clonic or tonic clonic seizures in normal infants, occurring in the first year; almost no other type of seizures occur throughout the course; The criteria for this syndrome are generalized and/or unilateral clonic or tonic clonic seizures in normal infants, occurring in the first year; almost no other type of seizures occur throughout the course;
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