GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome
نویسندگان
چکیده
منابع مشابه
Dravet 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 کاملNovel SCN1A and GABRA1 Gene Mutations With Diverse Phenotypic Features and the Question on the Existence of a Broader Spectrum of Dravet Syndrome
In the light of modern molecular technologies, the understanding of the complexity of the numerous genotype-phenotype correlations regarding Dravet syndrome is mandatory. Motivated by 2 patients, whose whole-exome sequencing revealed novel mutations that exemplify the phenotypic and genetic heterogeneities associated with typical and atypical Dravet syndrome presentations, the authors discuss t...
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 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).
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-...
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ژورنال
عنوان ژورنال: Neurology
سال: 2014
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000000291