| Abstrakt: |
Seizure onset in I SCN1A i -EIDEE is usually by 3 months of age,[[3], [5]] whereas the mean onset age in Dravet syndrome is 6 months. In 2017, we described the far more profound Early Infantile DEE (EIDEE) due to I SCN1A i pathogenic missense variants, associated with a hyperkinetic movement disorder.[3] Onset was in the first 3 months of life and included seizure types not seen in Dravet syndrome, such as epileptic spasms. Keywords: epilepsy; gain of function; phenotypic spectrum; SCN1A EN epilepsy gain of function phenotypic spectrum SCN1A 1348 1350 3 05/11/23 20230501 NES 230501 I SCN1A i , long referred to as the most important epilepsy gene, continues to deliver exciting scientific surprises. [Extracted from the article] |
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