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GTR Home > Conditions/Phenotypes > Epilepsy, early-onset, vitamin B6-dependent

Epilepsy, early-onset, vitamin B6-dependent

Synonyms
EPILEPSY, EARLY-ONSET, 1, VITAMIN B6-DEPENDENT

Summary

Excerpted from the GeneReview: PLPBP Deficiency
PLPBP deficiency is a treatable form of vitamin B6-dependent early-onset epileptic encephalopathy. Seizure onset is typically in the neonatal period (i.e., within the first 28 days after birth), and rarely in childhood after the neonatal period. Seizures are unresponsive to (or only partly responsive to) anti-seizure medications (ASMs) but typically show an immediate positive response to vitamin B6, given as either pyridoxine (PN) or pyridoxal 5'-phosphate (PLP). This therapy needs to be continued lifelong. In addition to vitamin B6 treatment, almost 60% of individuals require adjunct ASMs to achieve optimal seizure control. Although many individuals with PLPBP deficiency have normal motor, speech, and intellectual development, more than 50% have varying degrees of neurodevelopmental issues, including learning difficulties or intellectual disability (varying from mild to severe), delayed or absent speech development, or motor development abnormalities (most commonly mild hypotonia).
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Hilal Al-Shekaili
Jolita Ciapaite
Clara van Karnebeek
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Available tests

11 tests are in the database for this condition.

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Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EPEO1, EPVB6D, PROSC, PLPBP
    Summary: pyridoxal phosphate binding protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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