A novel missense variant in the LMNB2 gene causes progressive myoclonus epilepsy
Fardin Soleimanipour, Ehsan Razmara, Fatemeh Rahbarizadeh, Elnaz Fallahi, Mehrnoosh Khodaeian, Ali Reza Tavasoli, Masoud Garshasbi
Topics & Concepts
Missense mutationProgressive myoclonus epilepsyNeuroradiologyMedicineEpilepsyMyoclonusNeurologyNeuroscienceGeneGeneticsMutationPsychiatryBiologyGlycogen Storage Diseases and MyoclonusGenetics and Neurodevelopmental DisordersNeurological disorders and treatments