Incidence of Dravet Syndrome in a US Population
نویسندگان
چکیده
منابع مشابه
Incidence of Dravet Syndrome in a US Population
OBJECTIVE: De novo mutations of the gene sodium channel 1a (SCN1A) are the major cause of Dravet syndrome, an infantile epileptic encephalopathy. US incidence of DS has been estimated at 1 in 40 000, but no US epidemiologic studies have been performed since the advent of genetic testing. METHODS: In a retrospective, population-based cohort of all infants born at Kaiser Permanente Northern Calif...
متن کاملIncidence of Dravet Syndrome in a US Population
Investigators from the University of California, San Francisco and Kaiser Permanente report the incidence of Dravet Syndrome in a population based cohort.
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...
متن کاملDravet Syndrome
Dravet syndrome (DS) is one of the refractory epileptic encephalopathies [3], one of the spectra of severe myoclonic Epilepsy of Infancy (SMEI) which occurs in otherwise healthy individuals [2]. Its incidence has been estimated to be 1 in 2000040000. It is more common in males than in females. Positive family history is encountered in one fourth of the cases. DS Usually started by clonic/tonic-...
متن کاملPhenotypes of Dravet Syndrome
Researchers from the University of Washington in Seattle studied selective heterozygous and homozygous deletions of the voltage gated sodium channel (Nav1.1) in parvalbumin (PV) or somato-statin (SST) expressing interneurons.
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ژورنال
عنوان ژورنال: PEDIATRICS
سال: 2015
ISSN: 0031-4005,1098-4275
DOI: 10.1542/peds.2015-1807