early-onset vitamin B6-dependent epilepsy and pyridoxine-dependent epilepsy

[sbello]

Is your request related to a specific disease? Please describe. early-onset vitamin B6-dependent epilepsy (DOID:0080769) and pyridoxine-dependent epilepsy (DOID:0080768)

Describe the proposed change(s) Early-onset vitamin B6-dependent epilepsy has the OMIM xref OMIM:617290 OMIM has renamed this to early-onset vitamin B6-dependent epilepsy-1 (EPEO1).

Pyridoxine-dependent epilepsy has the OMIM xref OMIM:266100 OMIM has renamed this to early-onset vitamin B6-dependent epilepsy-4 (EPEO4). In this case the OMIM record has a gene association that is not specified in the DO definition.

Early-onset vitamin B6-dependent epilepsy in both OMIM and DO includes reference to "favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine". Thus it seems like this should be a child of the DO term Pyridoxine-dependent epilepsy.

I would remove the OMIM xref from pyridoxine-dependent epilepsy and create a new child term for the gene specific form that the OMIM ID represents.

Worth digging through OMIM and Orphanet to see if there are additional child terms to add or move.

The OMIM chages are very recent and they have not fully updated the phenotypic series record yet.

References Provide links to a database or a PubMed ID

[lschriml]

Thank you Sue !!

[allenbaron]

Your suggestions look to be the best way forward. I'll plan to make these updates and search for other child terms after the holidays.

Thanks for the thorough review Sue.

[allenbaron]

I've downloaded the early-onset epilepsy phenotypic series (PS617290) and searched OMIM with +(pyridoxine "vitamin B6") +epilepsy for additional possible diseases. I'll use these results to inventory what the DO has and add anything missing, as appropriate.

I couldn't find anything at Orphanet other than 'Pyridoxine-dependent epilepsy'.

[allenbaron]

EPEO4 has been added as DOID:0070519.

[allenbaron]

The only xref identified through my searches that was not already in the DO was the phenotypic series OMIM:PS617290 and I chose not to add it at this time because we don't have a grouping disease that's an exact match for it.