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Dravet syndrome is a clinical disorder caused by a genetic alteration, usually in the SCN1A gene. However, its diagnosis is mainly based on clinical criteria and may be made even when genetic analysis does not reveal any alteration, as is observed in around 20% of cases.

The degree of intellectual disability varies widely from mild to profound, yet most teenages and adults with Dravet syndrome are dependent on caregivers. Dravet Syndrome Prognosis Research Group. Search for more papers by this author. Sunao Kaneko. Department of Neuropsychiatry, School of Medicine, Hirosaki University, Aomori, Japan.

There are subtle phenotypic variants of Dravet which may have all the features of the syndrome except one, such as without myoclonic seizures, onset in the second year or without generalized spike and wave on EEG. Dravet syndrome (DS), or severe myoclonic epilepsy in infancy, is one of the most severe types of genetic epilepsy. It is characterized by the initial occurrence of febrile or afebrile seizures that often evolve into status epilepticus in infants with normal development, and by the subsequent appearance of myoclonic and/or atypical absence seizures as well as complex partial seizures. Prognosis. As children with Dravet syndrome get older, their decline in cognitive function stabilizes. The degree of intellectual disability varies widely from mild to profound, yet most teenages and adults with Dravet syndrome are dependent on caregivers.

About 10-20% of people with Dravet syndrome are estimated to pass away before adulthood, with most premature deaths occurring before 10 years of age 21) .

Prognosis. As children with Dravet syndrome get older, their decline in cognitive function stabilizes. The degree of intellectual disability varies widely from mild to profound, yet most teenages and adults with Dravet syndrome are dependent on caregivers.

2014 Jun;55(6):942-3. doi: 10.1111/epi.12626. Se hela listan på syndromespedia.com I agree that since the name “Dravet syndrome” was adopted by the International League Against Epilepsy (ILAE) Task Force on terminology 2 to include the different forms, with and without the complete symptomatology, the incomplete forms intrinsically belong to the syndrome and there is no more reason to consider them as borderline.

Dravet syndrome Clinical management Treatment Diagnosis SCN1A abstract Dravet syndrome is a debilitating epileptic encephalopathy of childhood with few treatment options available in the United States before 2018. In the modern era, new genetic testing options will allow diagnosis closer to disease onset.

Many studies have been conducted to assess the prognosis in DS . Dravet Syndrome prognosis What is the prognosis if you have Dravet Syndrome? Quality of life, limitations and expectatios of someone with Dravet Syndrome. What is the Prognosis for Dravet Syndrome?

Prognosis. As children with Dravet syndrome get older, their decline in cognitive function stabilizes. The degree of intellectual disability varies widely from mild to profound, yet most teenages and adults with Dravet syndrome are dependent on caregivers. Dravet syndrome Clinical management Treatment Diagnosis SCN1A abstract Dravet syndrome is a debilitating epileptic encephalopathy of childhood with few treatment options available in the United States before 2018. In the modern era, new genetic testing options will allow diagnosis closer to disease onset.
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Epilepsia. 2014 Jun;55(6):942-3.

Abstract. Classic Dravet syndrome is also termed severe myoclonic epilepsy of infancy (SMEI).
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Dravet syndrome is characterized by an early onset in the first year of life (3 to 15 months), with the occurrence of febrile and afebrile, hemiclonic or generalized, and convulsive seizures in apparently normal infants; Dravet syndrome is later followed by other seizure types (myoclonic and atypical absence seizures, focal seizures, and obtundation status epilepticus) persisting into adulthood.

4 hours ago Prognosis. Seizures can decrease in frequency in adulthood but often remain refractory to therapies. Moderate to severe cognitive impairment Diagnosis of Dravet syndrome. The appearance of prolonged tonic-clonic or hemiclonic seizures in the first year of life in a previously well child, particularly if Sep 16, 2020 How Is Dravet Syndrome Diagnosed?