A novel GABAergic dysfunction in human Dravet syndrome
نویسندگان
چکیده
منابع مشابه
Dravet 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 patient-derived neurons suggest a novel epilepsy mechanism.
OBJECTIVE Neuronal channelopathies cause brain disorders, including epilepsy, migraine, and ataxia. Despite the development of mouse models, pathophysiological mechanisms for these disorders remain uncertain. One particularly devastating channelopathy is Dravet syndrome (DS), a severe childhood epilepsy typically caused by de novo dominant mutations in the SCN1A gene encoding the voltage-gated ...
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 کاملMortality in Dravet syndrome: A review
INTRODUCTION Premature mortality is a major issue in Dravet syndrome (DS). To improve understanding of DS premature mortality, we conducted a comprehensive literature search with a particular emphasis on SUDEP. METHODS We searched PubMed, Embase, Web of Science, Cochrane, CENTRAL, CINAHL, PsycINFO, Academic Search Premier, and ScienceDirect on the following terms: "Dravet syndrome", "severe m...
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: Epilepsia
سال: 2018
ISSN: 0013-9580
DOI: 10.1111/epi.14574