Abstract
The classification of idiopathic generalized epilepsies (IGEs) is still controversial, with special reference to absence epilepsy syndromes. Strict, well-defined criteria for syndromic definitions are necessary to delineate homogeneous conditions; however, this approach may leave a considerable group of patients unclassified, leading to the effort to categorize them in possible distinct subsyndromes. In this report, we review some of these possible IGE subsyndromes, such as IGE with absences of early childhood, IGE with phantom absences, and perioral myoclonia with absences, briefly commenting on the issues regarding their recognition as individual entities.
MeSH terms
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Epilepsies, Myoclonic / genetics
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Epilepsies, Myoclonic / physiopathology*
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Epilepsy, Absence / genetics
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Epilepsy, Absence / physiopathology*
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Epilepsy, Generalized / genetics
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Epilepsy, Generalized / physiopathology*
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Gaucher Disease / genetics
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Gaucher Disease / physiopathology
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Gene Expression / genetics
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Humans
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Lafora Disease / genetics
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Lafora Disease / physiopathology
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Mucolipidoses / genetics
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Mucolipidoses / physiopathology
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Neuronal Ceroid-Lipofuscinoses / genetics
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Neuronal Ceroid-Lipofuscinoses / physiopathology
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Renal Insufficiency / genetics
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Renal Insufficiency / physiopathology
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Unverricht-Lundborg Syndrome / genetics
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Unverricht-Lundborg Syndrome / physiopathology