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- W2593918836 abstract "The chromosome 2q24.3 region appears to be important in childhood epilepsy and contains three genes encoding a sodium channel, which are involved in the disorder (<i>SCN1A</i>, <i>SCN2A</i>, and <i>SCN3A</i>). There have been several reports indicating an association between epilepsy and 2q24.3 deletion or duplication. Epilepsy phenotypes markedly differ between patients with 2q24.3 deletion and those with duplication. The majority of patients with 2q24.3 deletion are characterized by severe epilepsy phenotypes such as Dravet syndrome or Dravet syndrome–like intractable epilepsy, which onsets during infancy. This is particularly applicable to patients with <i>SCN1A</i> deletion. In addition, facial dysmorphism (and other dysmorphic features) is observed in all patients with 2q24.3 deletion–associated epilepsy. <i>SCN1A</i> contributes to epileptogenicity; several other genes involved in the deleted region may also play a role in dysmorphism. In all reported cases, patients with 2q24.3 duplication had neonatal- or infantile-onset epilepsy. Although these patients typically experienced multiple daily seizures, seizures were controlled by the appropriate antiepileptic treatment in the majority of cases. <i>SCN2A</i> and <i>SCN3A</i> were duplicated in all patients and are presumed to contribute to epileptogenicity. Facial or other dysmorphic features were infrequent in patients with 2q24.3 duplication. Array comparative genomic hybridization should be considered in patients with neonatal- or infantile-onset epilepsy, because information obtained using this method is likely to be instructive in diagnosis, prognostication, and treatment regimen decisions." @default.
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- W2593918836 date "2015-07-03" @default.
- W2593918836 modified "2023-09-27" @default.
- W2593918836 title "Epilepsies in Children with 2q24.3 Deletion/Duplication" @default.
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- W2593918836 doi "https://doi.org/10.1055/s-0035-1554786" @default.
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