EA2 and temporal lobe epilepsy associated with a novel variant in CACNA1A

A 19-year-old man was born at term after an unremarkable pregnancy and had nearly normal psychomotor development, but he had a history of poor school performance with mild learning difficulties in elementary school. He had no family history of neurological disease. He had suffered from episodes of mild dizziness and gait disturbance for a few minutes monthly since 13 years of age, but no abnormalities were found on brain MRI at the age of 14 years (Supplementary Figure 1A). At 17 years of age, he was hospitalized for recurrent focal impaired awareness seizures.
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Tags: Clinical letter Source Type: research