Výsledky vyhledávání

Akademický článek

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

Autor: Sarah Alsubhi, Bradley Osterman, Nicolas Chrestian, François Dubeau, Daniela Buhas, Myriam Srour

Publikováno v: Frontiers in Neurology, Vol 13 (2022)

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

Externí odkaz: https://doaj.org/article/584af9108c094b3da62d0a529b02a555

Zobrazit plný text záznamu

Akademický článek

A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy

Autor: Maitou Pal, Baiba Lace, Yvan Labrie, Nathalie Laflamme, Nadie Rioux, Samarth Thonta Setty, Marc‐Andre Dugas, Louise Gosselin, Arnaud Droit, Nicolas Chrestian, Serge Rivest

Publikováno v: JIMD Reports, Vol 59, Iss 1, Pp 32-41 (2021)

Abstract Pyridoxine‐dependent epilepsy (PDE) is a relatively rare subgroup of epileptic disorders. They generally present in infancy as an early onset epileptic encephalopathy or seizures, refractory to standard treatments, with rapid and variable

Externí odkaz: https://doaj.org/article/237f568473364ac7a8b181dd1b9f1989

Zobrazit plný text záznamu

Akademický článek

Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature

Autor: Oliver Heath, James Pitt, Simone Mandelstam, Carl Kuschel, Anand Vasudevan, Sarah Donoghue

Publikováno v: JIMD Reports, Vol 58, Iss 1, Pp 3-11 (2021)

Abstract Vitamin B6‐dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal‐5′‐phosphate (PLP). While pathogenic variants in ALDH7A1 or PNPO genes account for most c

Externí odkaz: https://doaj.org/article/df2e74638e0841458165745a0241ed55

Zobrazit plný text záznamu

Akademický článek

Diagnostic pitfalls in vitamin B6‐dependent epilepsy caused by mutations in the PLPBP gene

Autor: Kristian Vestergaard Jensen, Maria Frid, Tommy Stödberg, Michela Barbaro, Anna Wedell, Mette Christensen, Mads Bak, Jakob Ek, Camilla Gøbel Madsen, Niklas Darin, Sabine Grønborg

Publikováno v: JIMD Reports, Vol 50, Iss 1, Pp 1-8 (2019)

Abstract Vitamin B6‐responsive epilepsies are a group of genetic disorders including ALDH7A1 deficiency, PNPO deficiency, and others, usually causing neonatal onset seizures resistant to treatment with common antiepileptic drugs. Recently, bialleli

Externí odkaz: https://doaj.org/article/6ef32b628603403996d5678dc7deb0ae

Zobrazit plný text záznamu

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

A founder mutation in the PLPBP gene in families from Saguenay‐Lac‐St‐Jean region affected by a pyridoxine‐dependent epilepsy

Autor: Marc Andre Dugas, Arnaud Droit, Yvan Labrie, Maitou Pal, Nicolas Chrestian, Nadie Rioux, Nathalie Laflamme, Samarth Thonta Setty, Serge Rivest, Louise Gosselin, Baiba Lace

Publikováno v: JIMD Reports
JIMD Reports, Vol 59, Iss 1, Pp 32-41 (2021)

Pyridoxine‐dependent epilepsy (PDE) is a relatively rare subgroup of epileptic disorders. They generally present in infancy as an early onset epileptic encephalopathy or seizures, refractory to standard treatments, with rapid and variable responses

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0977e3b26294e311c889baec2f1bfe72
http://europepmc.org/articles/PMC8100403

Zobrazit plný text záznamu

Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6–dependent Epilepsy Than Pyridoxal 5′-Phosphate

Publikováno v: Pediatric Neurology. 113:33-41

Background We aimed to demonstrate the biochemical characteristics of vitamin B6–dependent epilepsy, with a particular focus on pyridoxal 5′-phosphate and pyridoxal in the cerebrospinal fluid. Methods Using our laboratory database, we identified

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d155983bb02bc326ef1940c4f75156bd
https://ousar.lib.okayama-u.ac.jp/61024

Zobrazit plný text záznamu

Early‐onset vitamin B6‐dependent epilepsy due to pathogenic PLPBP variants in a premature infant: A case report and review of the literature

Autor: Oliver Heath, James Pitt, Simone Mandelstam, Carl Kuschel, Anand Vasudevan, Sarah Donoghue

Publikováno v: JIMD Reports
JIMD Reports, Vol 58, Iss 1, Pp 3-11 (2021)

Vitamin B6‐dependent epilepsies are a heterogeneous group of disorders characterized by decreased availability of the active cofactor pyridoxal‐5′‐phosphate (PLP). While pathogenic variants in ALDH7A1 or PNPO genes account for most cases of t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::60442ca48606764f9cc31ce7e232069b
http://europepmc.org/articles/PMC7932866

Zobrazit plný text záznamu

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Akademický článek

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Vyhledávací nástroje:

Upřesnit hledání