Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Abstract
Objective null To characterize the neurologic phenotypes associated with null COL4A1/2 null mutations and to seek genotype–phenotype correlation. null Methods null We analyzed clinical, EEG, and neuroimaging data of 44 new and 55 previously reported patients with null COL4A1/COL4A2 null mutations. null Results null Childhood-onset focal seizures, frequently complicated by status epilepticus and resistance to antiepileptic drugs, was the most...
Paper Details
Title
Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.
Published Date
Nov 27, 2018
Journal
Volume
91
Issue
22
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