Unknown

Dataset Information

0

SCN1A Genetic Test for Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy and its Clinical Subtypes) for use in the Diagnosis, Prognosis, Treatment and Management of Dravet Syndrome.


ABSTRACT:

Unlabelled

Classic Dravet syndrome is also termed severe myoclonic epilepsy of infancy (SMEI). There are subtle phenotypic variants of Dravet which may have all the features of the syndrome except one, such as without myoclonic seizures, onset in the second year or without generalized spike and wave on EEG. These have been termed borderline variants of SMEI. Rather than ascribing multiple different names to marginally different phenotypes, the term Dravet syndrome is now preferred to describe the group of severe infantile onset epilepsies (OMIM #607208, #182389, #604403) associated with mutations in SCN1A (OMIM *182389). SCN1A-related seizure disorders can be inherited in an autosomal dominant manner but most are due to de novo mutations. SCN1A testing can be done through bi-directional DNA sequencing and multiplex ligation-dependent probe amplification (MLPA) for: 1) individuals with electroclinical phenotype of Dravet Syndrome or clinical sub-types - several seizure types in one individual with onset in infancy, refractory to medication and with generalised spike and wave on EEG, or 2) infants less than 1 year old with 2 or more prolonged hemiclonic febrile seizures in early infancy.

Disclaimer

This summary is based on a UK Genetic Testing Network (UKGTN) approved Gene Dossier application.

SUBMITTER: Stenhouse SA 

PROVIDER: S-EPMC3644298 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature

altmetric image

Publications

SCN1A Genetic Test for Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy and its Clinical Subtypes) for use in the Diagnosis, Prognosis, Treatment and Management of Dravet Syndrome.

Stenhouse Susan A R SA   Ellis Rachael R   Zuberi Sameer S  

PLoS currents 20130425


<h4>Unlabelled</h4>Classic Dravet syndrome is also termed severe myoclonic epilepsy of infancy (SMEI). There are subtle phenotypic variants of Dravet which may have all the features of the syndrome except one, such as without myoclonic seizures, onset in the second year or without generalized spike and wave on EEG. These have been termed borderline variants of SMEI. Rather than ascribing multiple different names to marginally different phenotypes, the term Dravet syndrome is now preferred to des  ...[more]

Similar Datasets

| S-EPMC1226119 | biostudies-literature
| S-EPMC6775062 | biostudies-literature
2014-01-04 | E-GEOD-43312 | biostudies-arrayexpress
| S-EPMC2656193 | biostudies-literature
2014-01-04 | GSE43312 | GEO
| S-EPMC6555418 | biostudies-literature
| S-EPMC3405017 | biostudies-literature
| S-EPMC5242153 | biostudies-literature
| S-EPMC8739186 | biostudies-literature
| S-EPMC5384833 | biostudies-literature