Diagnostic yield of genetic testing in epileptic encephalopathy in childhood
نویسندگان
چکیده
منابع مشابه
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
OBJECTIVE Epilepsy is a common neurologic disorder of childhood. To determine the genetic diagnostic yield in epileptic encephalopathy, we performed a retrospective cohort study in a single epilepsy genetics clinic. METHODS We included all patients with intractable epilepsy, global developmental delay, and cognitive dysfunction seen between January 2012 and June 2014 in the Epilepsy Genetics ...
متن کاملEpileptic Encephalopathies in Childhood: The Role of Genetic Testing.
The epileptic encephalopathies comprise a heterogeneous group of neurodevelopmental disorders characterized by marked epileptic activity associated with developmental regression. The genetic confirmation and classification of a clinical diagnosis in an individual may provide certainty in treatment decisions, prognosis, and evaluation of seizure recurrence risks and may also prevent unnecessary ...
متن کاملphylogeography and genetic diversity of the lesser mouse- eared bat (myotis blythii) in iran
in current study, 63 samples of bat populations collected from differ regions were used for evaluating the geographic variations. twenty cranial and dental characters for traditional morphometric and landmarks method on the ventral, dorsal skull and mandible for geometry morphometric studies were used. statistical analyses of traditional morphometric and geometry morphometric data indicated low...
Epileptic Encephalopathy
Epileptic encephalopathies are conditions in which epileptic activity itself is postulated to contribute to severe cognitive and behavioural impairments above and beyond what might be expected from the underlying pathology alone. The term has been used in two ways: (1) as a generic classification term for epilepsies with severe cognitive and be-havioural outcomes and (2) as a pathophysiological...
متن کاملEpileptic Encephalopathy Syndromes in Infancy
A diagnostic scheme for people with epileptic seizures and with epilepsy proposed by ILAE Commission (2001) (Engel, Jr. et al, 2001) newly adopted the concept of “epileptic encephalopathy” as one of new key terms. It is defined as a condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function, but this definition may be ambiguous. ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Epilepsia
سال: 2015
ISSN: 0013-9580
DOI: 10.1111/epi.12954