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Progressive myoclonic epilepsies: Recent genetic advances
Author(s) -
ELLAWAY CJ,
ELLIOTT EJ,
CHRISTODOULOU J
Publication year - 1997
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1997.tb01006.x
Subject(s) - medicine , progressive myoclonus epilepsy , myoclonic epilepsy , dementia , pediatrics , epilepsy , prenatal diagnosis , neuroimaging , psychiatry , genetics , pathology , disease , pregnancy , fetus , biology
The progressive myoclonic epilepsies are a rare group of debilitating epileptic encephalopathies characterized by myoclonic seizures, progressive neurological dysfunction and dementia. In the past year advances in gene mapping have isolated gene loci for the majority of progressive myoclonic disorders, paving the way for specific diagnosis, more accurate prognosis and risk calculation, as well as opening the potential for prenatal and pre‐symptomatic diagnosis in at risk families.