Details of Disease

General Information of Disease (ID: DISZ3FZU)

Disease Name Epilepsy, early-onset, vitamin B6-dependent
Synonyms epilepsy, early-onset, vitamin B6-dependent; EPVB6D; EPVB6D; epilepsy, early-onset, vitamin B6-dependent
Disease Hierarchy
DISVYADQ: Pyridoxine-dependent epilepsy
DISSF6IE: Epilepsy, early-onset
DISZ3FZU: Epilepsy, early-onset, vitamin B6-dependent
Disease Identifiers
MONDO ID
MONDO_0015005
UMLS CUI
C4310632
OMIM ID
617290
MedGen ID
934599

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PLPBP OT9DZ8P6 Strong Autosomal recessive [1]
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References

1 Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B(6)-Dependent Epilepsy. Am J Hum Genet. 2016 Dec 1;99(6):1325-1337. doi: 10.1016/j.ajhg.2016.10.011.