Dravet syndrome: a new causative SCN1A mutation?
نویسندگان
چکیده
منابع مشابه
Dravet syndrome: a new causative SCN1A mutation?
Dravet syndrome is often caused by SCN1A mutations and has a wide variation in clinical appearance. Indication for genetic analysis should be an epileptic encephalopathy or severe clinical course of seizures in infants with episodes of fever before the first year of life.
متن کاملMosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.
SCN1A mutations account for a large proportion of Dravet syndrome patients, and are reported in other cases of epilepsy, such as some families with genetic epilepsy with febrile seizures plus (GEFS+). While most Dravet syndrome cases are caused by de novo mutations, 5% inherit a mutation from a mildly affected or symptom-free parent. Parental mosaicism has been identified, with documented cases...
متن کاملPrognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.
Dravet syndrome is a severe infantile onset epileptic encephalopathy associated with mutations in the sodium channel alpha 1 subunit gene SCN1A. To date no large studies have systematically examined the prognostic, clinical and demographic features of the disease. We prospectively collected data on a UK cohort of individuals with Dravet syndrome during a 5-year study period and analysed demogra...
متن کاملSCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome
BACKGROUND AND PURPOSE Dravet syndrome is a rare and severe type of epilepsy in infants. The heterogeneity in the overall intellectual disability that these patients suffer from has been attributed to differences in genetic background and epilepsy severity. METHODS Eighteen Vietnamese children diagnosed with Dravet syndrome were included in this study. SCN1A variants were screened by direct s...
متن کاملDravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants.
Some studies have demonstrated that cognitive decline occurs in Dravet syndrome, starting shortly after the onset of seizures, rapidly progressing and then plateauing within a few years. It is unclear whether children that develop the syndrome had entirely normal cognitive skills before seizure onset, since subtle impairment easily escapes recognition in small infants. It is also difficult to d...
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ژورنال
عنوان ژورنال: Clinical Case Reports
سال: 2017
ISSN: 2050-0904
DOI: 10.1002/ccr3.787