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Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90

Dhanya Lakshmi Narayanan, Purvi Majethia, Shrikiran Aroor, Shahyan Siddiqui, Ashwin Dalal, Anju Shukla

2021European Journal of Medical Genetics15 citationsDOIOpen Access PDF

Topics & Concepts

Missense mutationEpilepsyBiologyPhenotypeHeterozygote advantageLoss functionGeneticsEncephalopathyGeneGenotypeEndocrinologyInternal medicineMedicineNeuroscienceGenetics and Neurodevelopmental DisordersNeonatal Respiratory Health ResearchFibroblast Growth Factor Research
Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90 | Litcius