‘VIP’ interneurons may govern autism traits in Dravet syndrome
نویسندگان
چکیده
منابع مشابه
CACNA1A variants may modify the epileptic phenotype of Dravet syndrome.
Dravet syndrome is an intractable epileptic syndrome beginning in the first year of life. De novo mutations of SCN1A, which encode the Na(v)1.1 neuronal voltage-gated sodium channel, are considered the major cause of Dravet syndrome. In this study, we investigated genetic modifiers of this syndrome. We performed a mutational analysis of all coding exons of CACNA1A in 48 subjects with Dravet syn...
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 کاملImpaired excitability of somatostatin- and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome.
Haploinsufficiency of the voltage-gated sodium channel NaV1.1 causes Dravet syndrome, an intractable developmental epilepsy syndrome with seizure onset in the first year of life. Specific heterozygous deletion of NaV1.1 in forebrain GABAergic-inhibitory neurons is sufficient to cause all the manifestations of Dravet syndrome in mice, but the physiological roles of specific subtypes of GABAergic...
متن کاملVaccinations and Dravet Syndrome.
Investigators from various university hospitals, reference medical institutions and epilepsy centers, and the national institute for public health and environment in the Netherlands, studied the effect of vaccinations on seizure risk and disease course in patients with Dravet syndrome (DS).
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ژورنال
عنوان ژورنال: Spectrum
سال: 2023
ISSN: ['2561-7842']
DOI: https://doi.org/10.53053/ztai2285