AI Article Synopsis
- PLPHP deficiency is a rare genetic condition caused by harmful variants in the PLPHP gene, leading to pyridoxine-responsive disorders.
- The study reports on three French-Canadian patients with this deficiency, including one who experienced unusual seizure-like episodes not typically associated with EEG findings.
- The findings emphasize the need to explore genetic mutations in patients with seizures that respond partially to vitamin B6 and reveal a significant genetic "founder effect" in the French-Canadian population.
Article Abstract
PLPHP (pyridoxal-phosphate homeostasis protein) deficiency is caused by biallelic pathogenic variants in 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 mutations in individuals with partially B6-responsive seizures and highlights the presence of a founder effect in the French-Canadian population.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9618642 | PMC |
| http://dx.doi.org/10.3389/fneur.2022.913652 | DOI Listing |
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Article Synopsis
- PLPHP deficiency is a rare genetic condition caused by harmful variants in the PLPHP gene, leading to pyridoxine-responsive disorders.
- The study reports on three French-Canadian patients with this deficiency, including one who experienced unusual seizure-like episodes not typically associated with EEG findings.
- The findings emphasize the need to explore genetic mutations in patients with seizures that respond partially to vitamin B6 and reveal a significant genetic "founder effect" in the French-Canadian population.
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