Salzmann et al. (2012) reported 3 unrelated Caucasian patients, aged 39, 42, and 49 years, with temporal lobe epilepsy. Two had onset at ages 23 and 5 years, respectively; information about age at onset was not available for ... Salzmann et al. (2012) reported 3 unrelated Caucasian patients, aged 39, 42, and 49 years, with temporal lobe epilepsy. Two had onset at ages 23 and 5 years, respectively; information about age at onset was not available for the third patient. Seizures could be localized to the temporoparietal junction in 1 patient. One patient had neonatal sequelae, which was not further explained, another had bitemporal atrophy on MRI, and a third had a cavernous malformation. None had a history of febrile seizures, although 1 patient had a paternal grandfather with a reported history of febrile seizures.
In 3 unrelated patients with temporal lobe epilepsy, Salzmann et al. (2012) identified a heterozygous mutation in the CPA6 gene (G267R; 609562.0002). The patients were ascertained from a larger cohort of 195 patients with partial epilepsy and 145 ... In 3 unrelated patients with temporal lobe epilepsy, Salzmann et al. (2012) identified a heterozygous mutation in the CPA6 gene (G267R; 609562.0002). The patients were ascertained from a larger cohort of 195 patients with partial epilepsy and 145 with febrile seizures who were screened for mutations in the CPA6 gene after this gene was found to be a cause of autosomal recessive febrile seizures (FEB11; 614418). In vitro functional expression studies in cellular assays showed that the mutant protein had decreased activity compared to wildtype due to impaired secretion into the extracellular matrix. Those heterozygous for the G267R mutation would have about 50% residual enzyme activity, consistent with a loss of function.