Case report: functional analysis of the p.arg507trp variant of the pigt gene supporting the moderate epilepsy phenotype of mutations in the c-terminal region

HIGHLIGHTS

• who: Ikhlas Ben Ayed from the State University of Campinas, Brazil have published the Article: Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region, in the Journal: (JOURNAL)
• what: The authors provide additional findings supporting this correlation by reporting a new case from North Africa, of a patient carrying the PIGT p.Arg507Trp variant located in the C-terminal region and associated with GDD and partially tractable epilepsy.

SUMMARY

Since all reported patients thus far . . .

 



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