ONTOLOGY REPORT - ANNOTATIONS


Term:EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT
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Accession:DOID:9007926 term browser browse the term
Definition:Early-onset vitamin B6-dependent epilepsy (EPVB6D) is an autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period or first months of life. The seizures show favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine. However, most patients show delayed psychomotor development. EPVB6D is caused by homozygous or compound heterozygous mutation in the PROSC gene (PLPBP) on chromosome 8p11. (OMIM)
Synonyms:exact_synonym: EPVB6D
 primary_id: OMIM:617290
 alt_id: RDO:9001446
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EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Plpbp pyridoxal phosphate binding protein JBrowse link 16 69,164,654 69,176,245 RGD:8554872
RGD:7240710

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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            epilepsy 1017
              EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.