Familial febrile seizures-11 is an autosomal recessive seizure disorder characterized by early childhood onset of simple or complex seizures associated with fever. These seizures usually remit later in childhood with no neurologic sequelae (summary by Salzmann et al., ... Familial febrile seizures-11 is an autosomal recessive seizure disorder characterized by early childhood onset of simple or complex seizures associated with fever. These seizures usually remit later in childhood with no neurologic sequelae (summary by Salzmann et al., 2012). For a general description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 (121210).
Salzmann et al. (2012) reported 4 sibs, born of consanguineous Moroccan parents, with highly variable manifestations of a seizure disorder. Three patients had febrile seizures only, and 1 had febrile seizures and later developed temporal lobe epilepsy. The ... Salzmann et al. (2012) reported 4 sibs, born of consanguineous Moroccan parents, with highly variable manifestations of a seizure disorder. Three patients had febrile seizures only, and 1 had febrile seizures and later developed temporal lobe epilepsy. The first patient was a 30-year-old woman who had a single febrile seizure at age 3 years, with no recurrence and normal psychomotor development. The second patient, aged 26 years, had 2 simple and 1 complex partial febrile seizure between 9 and 10 months of age. At age 17, she developed recurrent complex partial seizures with right temporal spikes on EEG associated with right hippocampal atrophy on brain imaging. Psychomotor development was normal, and she was said to be in remission at age 26. The third patient was a 17-year-old girl who had a single complex febrile seizure and 2 simple febrile seizures at age 3 years, which were successfully treated with no recurrence; psychomotor development was normal. The fourth patient was a 9-year-old boy who had neonatal convulsions with intracerebral hemorrhage. This was followed by simple and complex febrile seizures during infancy as well as recurrence at age 7 when treatment was stopped. He had mild mental delay.
By homozygosity mapping followed by candidate gene analysis of a consanguineous Moroccan family in which 4 sibs had febrile seizures, 1 of whom also had temporal lobe epilepsy, Salzmann et al. (2012) identified a homozygous mutation in the ... By homozygosity mapping followed by candidate gene analysis of a consanguineous Moroccan family in which 4 sibs had febrile seizures, 1 of whom also had temporal lobe epilepsy, Salzmann et al. (2012) identified a homozygous mutation in the CPA6 gene (A270V; 609562.0001). 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 homozygous for the A270V mutation would have about 40% residual enzyme activity, consistent with a loss of function.