Dravet syndrome is the most studied form of genetic epilepsy. It has now been clarified that the clinical spectrum of the syndrome does not have firmly established boundaries. The core phenotype is characterized by intractable, mainly clonic, seizures precipitated by increased body temperature with onset in the first year of life and subsequent appearance of multiple seizures types still precipitated by, but not confined to, hyperthermia. Cognitive impairment is invariably present when the full syndrome is manifested.

Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies / Mei D, Cetica V, Marini C, Guerrini R,. - In: EPILEPSIA. - ISSN 0013-9580. - ELETTRONICO. - 60:(2019), pp. 52-57. [10.1111/epi.16054]

Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies

Mei D;Cetica V;Guerrini R
2019

Abstract

Dravet syndrome is the most studied form of genetic epilepsy. It has now been clarified that the clinical spectrum of the syndrome does not have firmly established boundaries. The core phenotype is characterized by intractable, mainly clonic, seizures precipitated by increased body temperature with onset in the first year of life and subsequent appearance of multiple seizures types still precipitated by, but not confined to, hyperthermia. Cognitive impairment is invariably present when the full syndrome is manifested.
2019
60
52
57
Mei D, Cetica V, Marini C, Guerrini R,
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1192689
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