Neurologic phenotypes associated with COL4A1/2 mutations

To characterize the neurologic phenotypes associated with COL4A1/2 mutations and to seek genotype-phenotype correlation.We analyzed clinical, EEG, and neuroimaging data of 44 new and 55 previously reported patients with COL4A1/COL4A2 mutations.Childhood-onset focal seizures, frequently complicated by status epilepticus and resistance to antiepileptic drugs, was the most common phenotype. EEG typically showed focal epileptiform discharges in the...