| Autor: |
Sarah Alsubhi, Bradley Osterman, Nicolas Chrestian, François Dubeau, Daniela Buhas, Myriam Srour |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Frontiers in Neurology, Vol 13 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1664-2295 |
| DOI: |
10.3389/fneur.2022.913652 |
| Popis: |
PLPHP (pyridoxal-phosphate homeostasis protein) deficiency is caused by biallelic pathogenic variants in PLPBP 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 PLPBP mutations in individuals with partially B6-responsive seizures and highlights the presence of a founder effect in the French-Canadian population. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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