Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye–Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/ PLPHP Deficiency
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DOI: 10.1055/a-2003-9886
Abstract: Abstract Objective To describe a new phenotype and the diagnostic workup of a vitamin-B 6 -dependent epilepsy due to pyridoxal 5′-phosphate-binding protein (PLPBP) deficiency in an infant with early-onset epilepsy at the age of 5… read more here.
Keywords: dependent epilepsy; vitamin dependent; plphp; epilepsy due ... See more keywords