Stogmann et al. (2013) reported a consanguineous Egyptian family in which 5 sibs had onset of seizures in adolescence (age 11 to 14 years). Seizure types included both complex partial seizures and generalized seizures, often with an olfactory, ... Stogmann et al. (2013) reported a consanguineous Egyptian family in which 5 sibs had onset of seizures in adolescence (age 11 to 14 years). Seizure types included both complex partial seizures and generalized seizures, often with an olfactory, auditory, or visual aura suggesting a temporal lobe origin. EEG studies showed temporal epileptiform discharges, and brain MRI was normal in all but 1 patient, who had bilateral mesial temporal sclerosis. Seizures were well-controlled by medication in 4 patients. All 5 patients later developed cortical myoclonic tremor, with head nodding and twitching of the hands and fingers. EMG showed synchronous bursting of agonist and antagonist muscles with a frequency of 10 to 14 Hz and burst duration less than 50 ms, consistent with a cortical origin of myoclonus. Two patients had depressive symptoms and borderline intelligence, whereas 2 had average neuropsychologic test results.
In affected members of an Egyptian family with FAME5, Stogmann et al. (2013) identified a homozygous frameshift mutation in the CNTN2 gene (190197.0001). The mutation was found by exome sequencing, segregated with the disorder in the family, and ... In affected members of an Egyptian family with FAME5, Stogmann et al. (2013) identified a homozygous frameshift mutation in the CNTN2 gene (190197.0001). The mutation was found by exome sequencing, segregated with the disorder in the family, and was not found in multiple controls. Sequencing of the CNTN2 gene in 189 patients with various epilepsy syndromes did not identify any pathogenic mutations.