New Term Request: Epilepsy, familial focal, with variable foci 3

[vjenkinsFB]

I'd like to request a term for epilepsy, familial focal, with variable foci 3. DO does not seem to have any members of this phenotypic series - https://omim.org/phenotypicSeries/PS604364.

OMIM: https://omim.org/entry/617118

Potential definition: Epilepsy, familial focal, with variable foci 3 has_material_basis_in heterozygous mutation in the NPRL3 gene on chromosome 16p13.

Potential parent term: focal epilepsy (or a more specific parent if you bring the whole phenotypic series in)

Synonyms: FFEVF3

ClinVar search term: NPRL3[gene] AND (1[VARLEN]:1000[VARLEN] AND "single gene"[Properties])

MedGen page(s) pointed to by the above: Epilepsy, familial focal, with variable foci 3 https://www.ncbi.nlm.nih.gov/medgen/C4310708/ Gene Reviews: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy https://www.ncbi.nlm.nih.gov/books/NBK1169/ - several mentions. OMIM associates that name with epilepsy, familial focal, with variable foci 1 specifically, rather than with multiple genes as this article does.

MalaCards page: https://www.malacards.org/card/epilepsy_familial_focal_with_variable_foci_3

HGNC entry for gene: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:14124

Citations other than those in the OMIM entry: (more primary and review articles available than just these, lots of recent publications)

• https://pubmed.ncbi.nlm.nih.gov/30093711/ Baldassari S, Picard F, Verbeek NE, et al. The landscape of epilepsy-related GATOR1 variants [published correction appears in Genet Med. 2018 Aug 29;:] [published correction appears in Genet Med. 2018 Sep 27;:]. Genet Med. 2019;21(2):398-408. doi:10.1038/s41436-018-0060-2
• https://pubmed.ncbi.nlm.nih.gov/36937533/ Zhang H, Deng J, Wang X, et al. Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy. Front Neurol. 2023;14:1113747. Published 2023 Mar 2. doi:10.3389/fneur.2023.1113747
• https://pubmed.ncbi.nlm.nih.gov/37071290/ Du S, Zeng S, Song L, et al. Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy. Sci China Life Sci. 2023;66(9):2152-2166. doi:10.1007/s11427-022-2313-1
• https://pubmed.ncbi.nlm.nih.gov/37491868/ Dainelli A, Iacomino M, Rossato S, et al. Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review [published online ahead of print, 2023 Jul 25]. Epilepsia Open. 2023;10.1002/epi4.12798. doi:10.1002/epi4.12798

FlyBase paper(s) to curate with this term: FBrf0257567

My contact info: vjenkins@morgan.harvard.edu (FlyBase), 0000-0002-1567-7626. Thank you!

[lschriml]

Thank you for the new term !!

[lschriml]

Thank you Victoria the PS series is now in the DO. It will be available in this week's release. Cheers, Lynn