Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.

ABSTRACT:

Objective

To characterize the neurologic phenotypes associated with COL4A1/2 mutations and to seek genotype-phenotype correlation.

Methods

We analyzed clinical, EEG, and neuroimaging data of 44 new and 55 previously reported patients with COL4A1/COL4A2 mutations.

Results

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 context of other abnormalities, including generalized sharp waves or slowing. In 46.4% of new patients with focal seizures, porencephalic cysts on brain MRI colocalized with the area of the focal epileptiform discharges. In patients with porencephalic cysts, brain MRI frequently also sh

SUBMITTER: Zagaglia S 

PROVIDER: S-EPMC6282239 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature