A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3

Deletions involving the sodium channel gene cluster on chromosome 2q24.3, which includes SCN1A, SCN2A, SCN3A, SCN7A, and SCN9A, have been associated with variable phenotypes including Dravet syndrome, migrating partial seizures of infancy, and various occasional non specific dysmorphic features including ear abnormalities, microcephaly, micrognathia and brachysyndactyly [1] (Fig. 1). None of the 72 previously published patients with 2q24.3 deletions exhibited movement disorders (Fig. 1).

Source: Parkinsonism and Related Disorders - September 17, 2019 Category: Neurology Authors: Mario Mastrangelo, Davide Mei, Serena Cesario, Francesca Fioriello, Laura Bernardini, Mario Brinciotti, Renzo Guerrini, Vincenzo Leuzzi Tags: Correspondence Source Type: research