Dravet Syndrome: A Developmental and Epileptic Encephalopathy
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 کاملDravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology
Dravet syndrome is an epilepsy syndrome of infantile onset, frequently caused by SCN1A mutations or deletions. Its prevalence, long-term evolution in adults and neuropathology are not well known. We identified a series of 22 adult patients, including three adult post-mortem cases with Dravet syndrome. For all patients, we reviewed the clinical history, seizure types and frequency, antiepileptic...
متن کاملSporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene. Since 2003, we have performed molecular analyses in a large series of patients with DS, 27% of whom were negative for mutations or rearrangements in SCN1A. In order to identify new genes responsible for the disorder in the SCN1A-negative patients, 41 probands were scre...
متن کاملNot all SCN1A epileptic encephalopathies are Dravet syndrome
OBJECTIVE To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder. METHODS A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation. RESULTS We identified 9 children 3 to 12 years of age; 7 were male. Seizure onset was at 6 to 12 weeks with hemiclonic s...
متن کاملCACNA1A 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...
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ژورنال
عنوان ژورنال: Epilepsy Currents
سال: 2019
ISSN: 1535-7597,1535-7511
DOI: 10.1177/1535759718822038