PMC

Summary of Interstitial Deletions of 7q11.23-q21.1 in Cases with and without Infantile Spasms
Deletion mapping of cases 1 to 28 defines a critical region for infantile spasms (IS) spanning part of MAGI2. Quantitative real-time PCR amplimers are indicated below the MAGI2 gene along with the two known transcriptional start sites for the α and β isoforms of the protein. MAGI2 is partially or wholly deleted in 12 cases with IS, and another three with childhood epilepsy (cases 11–25). Cases 1–9 and 27–28 have interstitial deletions that are proximal and distal, respectively, to MAGI2 and have had no diagnosis of epilepsy. Case 10 has a diagnosis of IS but is not deleted for MAGI2. Case 26 is deleted for part of MAGI2 but has not had any diagnosis of epilepsy.
Chromosome deletions are represented by bars, below a map of genes from the 7q11.23-q21.11 region. Black bars represent deletions in cases with documented seizures, and white bars represent deletions in cases without documented seizures. Grey bars indicate breakpoints that have not been refined.