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The genetic generalized epilepsies (GGEs), previously called the idiopathic generalized epilepsies, account for one-quarter of all epilepsies and have a genetic basis. Clinical genetic insights, drawing on the high heritability shown in family aggregation and twin studies, suggest that the common syndromes, such as childhood absence epilepsy (CAE) and juvenile myoclonic epilepsy (JME), follow complex inheritance. Complex inheritance means the likely involvement of multiple genes, possibly with an environmental contribution. It is not clear, however, whether this means that a person will require a few genes of major effect or many genes of minor effect or possibly a combination of both to express a GGE. The search for susceptibility alleles underlying complex inheritance for the GGEs has yielded only a handful of convincing variants, including recurrent microdeletions, particularly the 15q13.3 microdeletion, that contribute to these complex disorders. In this context of complex inheritance, it is somewhat surprising to see the emergence of a monogenic cause in a clinically significant proportion of the GGEs.
Glucose transporter 1 (GLUT1) deficiency was first recognized as a rare encephalopathy with progressive intellectual disability, epilepsy, motor disorders, and acquired microcephaly.1 The diagnostic test for this metabolic …
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