Child Neurology: Dravet syndrome: When to suspect the diagnosis
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چکیده
منابع مشابه
Child Neurology: Dravet syndrome: when to suspect the diagnosis.
Dravet syndrome (DS), previously known as severe myoclonic epilepsy in infancy (SMEI), is an epileptic encephalopathy that presents with prolonged seizures in the first year of life. The seizures often occur with fever or illness, and are frequently initially categorized as febrile seizures. The correct diagnosis of DS and appropriate follow-up are typically delayed. The EEG is normal at onset,...
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Family physicians should be able to recognize findings on physical examination and history that suggest the presence of a genetic syndrome to aid in the diagnosis and treatment of potentially affected patients, as well as subspecialty referral. General themes that can alert family physicians to the presence of genetic conditions include dysmorphic features that are evident on physical examinati...
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A genetic syndrome is a clinical situation that combines major and minor malformations, anomalies of growth and of psychomotor development . Prompt recognition of features suggestive of genetic conditions can improve the selection of appropriate, cost-effective diagnostic tests, the performance of wellinformed genetic counseling related to issues such as prognosis and future family planning and...
متن کاملWhen is a child with status epilepticus likely to have Dravet syndrome?
PURPOSE To identify clinical risk factors for Dravet syndrome (DS) in a population of children with status epilepticus (SE). MATERIAL AND METHODS Children aged between 1 month and 16 years with at least one episode of SE were referred from 6 pediatric neurology centers in Switzerland. SE was defined as a clinical seizure lasting for more than 30min without recovery of normal consciousness. Th...
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Physical features Physical features include any serious or unusual injury with an absent or unsuitable explanation, and particularly in the following categories: abrasions, bites, bruises, burns, cold injuries, cuts, lacerations, ligature marks, petechiae, scalds, scars, and strangulation marks. They also include various sites of internal injury including fractures, spinal and intracranial inju...
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ژورنال
عنوان ژورنال: Neurology
سال: 2009
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e3181b9c880