Approximately 50% of all carriers of 2q21-q31 deletions present epileptic seizures. The band 2q24 constitutes the smallest commonly deleted segment in these patients, and contains the voltage-gated sodium channel genes SCN1A and SCN2A, associated with Dravet syndrome and benign familial neonatal-infantile seizures, respectively. A further putative locus involving epilepsy in the region was previously identified through disruption of the SLC4A10 gene by translocation. In the course of performing high-resolution DNA copy number analyses on syndromic mentally impaired individuals, we encountered three patients with overlapping deletions in chromosome region 2q24. Two of these patients exhibited epileptic seizures in addition to mental deficiency. The deletion in one of the epileptic patients did not include the SCN cluster, demonstrating that a less severe form of epilepsy maps to an adjacent genomic region. This second region comprises about 3 Mb and contains the candidate gene SLC4A10, providing further support for the potential role of this gene in epilepsy.

2q24 deletion, Mental impairment, Seizures,
Erasmus MC: University Medical Center Rotterdam

Krepischi, A.C.V, Knijnenburg, J, Bertola, D.R, Kim, C.A, Pearson, P.L, Bijlsma, E.K, … Rosenberg, C. (2010). Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy. Epilepsia, 51(12), 2457–2460. doi:10.1111/j.1528-1167.2010.02742.x