Case report an atypical presentation of pyridoxine-dependent epilepsy diagnosedwithwholeexomesequencingandtreatedwithlysine restriction and supplementation with arginine and pyridoxine

HIGHLIGHTS

• who: Jiyoung Kim and colleagues from the McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA have published the research: Case Report An Atypical Presentation of Pyridoxine-Dependent Epilepsy DiagnosedwithWholeExomeSequencingandTreatedwithLysine Restriction and Supplementation with Arginine and Pyridoxine, in the Journal: Case Reports in Genetics of 30/08/2022
• what: The authors report a case of PDE with an atypical clinical presentation.

SUMMARY

Pyridoxine dependent-developmental and epileptic encephalopathy (PD-DEE) or pyridoxine-dependent epilepsy (PDE, OMIM #266100) is a rare autosomal recessive disorder caused by . . .

 



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