Most families with genetic
epilepsy with
febrile seizures plus show a mutation in the
sodium channel alpha 1 subunit gene, however, but there is much phenotypic heterogeneity and
focal epilepsy remains relatively rare. Here, we report a family with electroclinical features indicative of temporal-parietal-occipital carrefour
epilepsy with common occurrence of post-ictal
migraine. We studied a four-generation family including nine affected subjects by means of EEG and MRI. Genetic testing was performed by targeted re-sequencing (gene panel). In most patients, seizure semiology included cognitive, autonomic, and emotional symptoms, eventually evolving towards sensory visual phenomena. Focal sensory
vestibular seizures and changes in body perception were also reported in some cases. Post-ictal
migraine was common, occurring in five out of the six (83%)
epilepsy patients. A missense mutation (c.1130 G>A; p.R377Q) affecting the S5-S6 segment (pore region) of the
sodium channel alpha 1 subunit was identified in all affected and four unaffected subjects. Temporal-parietal-occipital carrefour
epilepsy is part of the genetic
epilepsy with
febrile seizures plus spectrum. The electroclinical features in this family support the involvement of a genetically impaired neural network. High prevalence of post-ictal
migraine suggests the role of posterior brain areas in the clinical expression of this gene defect.