Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant.
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DOI: 10.1055/s-0039-1685501
Abstract: Recently, mutations in the PLPBP gene were described as a novel cause for vitamin B6-responsive epilepsy. We report the outcome in case of a male adolescent with a novel homozygous missense variant in PLPBP who… read more here.
Keywords: responsive epilepsy; epilepsy; seizure; vitamin responsive ... See more keywords