Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings.
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DOI: 10.1055/s-0037-1621721
Abstract: Antiquitin deficiency is the most prevalent form of pyridoxine-dependent epilepsy. While most patients present with neonatal onset of therapy-resistant seizures, a few cases with late-onset during infancy have been described. Here, we describe the juvenile… read more here.
Keywords: pyridoxine; diagnosis; onset epilepsy; antiquitin deficiency ... See more keywords