Dravet syndrome: New potential genetic modifiers, imaging abnormalities, and ictal findings
نویسندگان
چکیده
منابع مشابه
Dravet syndrome, what is new?
Dravet syndrome (DS) is one of the most severe genetic epilepsies of childhood. Charlotte Dravet described severe myoclonic epilepsy in infancy in 1978. Shortly after the initial report, many cases were published. Most of the cases have the SCN1A mutation. A variant of DS called borderline severe myoclonic epilepsy in infancy has similar clinical and electrographic features without myoclonus. T...
متن کاملDravet syndrome: a genetic epileptic disorder.
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. The key f...
متن کاملDravet syndrome: a new causative SCN1A mutation?
Dravet syndrome is often caused by SCN1A mutations and has a wide variation in clinical appearance. Indication for genetic analysis should be an epileptic encephalopathy or severe clinical course of seizures in infants with episodes of fever before the first year of life.
متن کاملIctal Cardiac Ryhthym Abnormalities
Cardiac rhythm abnormalities in the context of epilepsy are a well-known phenomenon. However, they are under-recognized and often missed. The pathophysiology of these events is unclear. Bradycardia and asystole are preceded by seizure onset suggesting ictal propagation into the cortex impacting cardiac autonomic function, and the insula and amygdala being possible culprits. Sudden unexpected de...
متن کاملDravet syndrome
"Dravet syndrome" (DS) previously named severe myoclonic epilepsy of infancy (SMEI), or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy.DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized), which are typically res...
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ژورنال
عنوان ژورنال: Epilepsia
سال: 2013
ISSN: 0013-9580
DOI: 10.1111/epi.12256