Identification and Successful Management of Near-Lethal Ventricular Tachycardia in 2q24 Deletion-Associated Developmental and Epileptic Encephalopathy

2q24 deletion syndrome is characterized by severe epilepsy phenotypes, seizure onset during infancy, and developmental delays (1)(see supplementary reading list). It also includes head, facial, limb, and whole-body dysmorphic features, as well as cardiac structural abnormalities (e.g., hypoplastic left heart & atrial septal defects). Chromosome 2q24 encodes many proteins of the sodium channel family. 2q24 deletion syndrome has some overlap with Dravet Syndrome (DS), which is another severe developmental epileptic encephalopathy (DEE), in which the majority are due to mutations in the sodium channel gene, SCN1A.

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