AUTHOR=Alsubhi Sarah , Osterman Bradley , Chrestian Nicolas , Dubeau François , Buhas Daniela , Srour Myriam 

TITLE=Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases

JOURNAL=Frontiers in Neurology

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.913652

DOI=10.3389/fneur.2022.913652

ISSN=1664-2295

ABSTRACT=<p>PLPHP (pyridoxal-phosphate homeostasis protein) deficiency is caused by biallelic pathogenic variants in <italic>PLPBP</italic> and is a rare cause of pyridoxine-responsive disorders. We describe three French-Canadian individuals with PLPHP deficiency, including one with unusual paroxysmal episodes lacking EEG correlation with a suspicious movement disorder, rarely reported in B6RDs. In addition, we review the clinical features and treatment responses of all 51 previously published individuals with PLPHP deficiency. Our case series underlines the importance of considering <italic>PLPBP</italic> mutations in individuals with partially B6-responsive seizures and highlights the presence of a founder effect in the French-Canadian population.</p>