Please use this identifier to cite or link to this item:
|Scopus||Web of Science®||Altmetric|
|Title:||Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults|
|Citation:||Neurology, 2006; 67(12):2224-2226|
|Publisher:||Lippincott Williams & Wilkins|
|Abstract:||Establishing an etiologic diagnosis in adults with refractory epilepsy and intellectual disability is challenging. We analyzed the phenotype of 14 adults with severe myoclonic epilepsy of infancy. This phenotype comprised heterogeneous seizure types with nocturnal generalized tonic-clonic seizures predominating, mild to severe intellectual disability, and variable motor abnormalities. The diagnosis was suggested by a characteristic evolution of clinical findings in the first years of life. Ten had mutations in SCN1A and one in GABRG2.|
|Keywords:||Humans; Epilepsies, Myoclonic; Genetic Predisposition to Disease; Sodium Channels; Nerve Tissue Proteins; Diagnosis, Differential; Genetic Screening; Phenotype; Mutation; Adolescent; Adult; Middle Aged; Female; Male|
|Description:||Copyright © 2006 American Academy of Neurology|
|Appears in Collections:||Molecular and Biomedical Science publications|
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.