Results 91 to 94 of about 281 (94)

Infantile Spasms Without Hypsarrhythmia and Paroxysmal Eye–Head Movements in an Infant With a Pyridoxine-Dependent Epilepsy Due to PLPBP/PLPHP Deficiency

Neuropediatrics, 2023
Fabienne GIULIANO, Barbara Plecko, Bigna K Bölsterli   +2 more
exaly  

Insight Into Vitamin B6-Dependent Epilepsy Due to PLPBP (Previously PROSC) Missense Mutations

Human Mutation, 2018
Vicente Rubio, Lorena Tremiño, Alicia Forcada-Nadal   +2 more
exaly  

PLPBP Mutations Cause Variable Phenotypes of Developmental and Epileptic Encephalopathy

Epilepsia Open, 2018
Ayataka Fujimoto, Sotaro Kanai, Hirotomo Saitsu   +2 more
exaly  

Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy Due to a Homozygous PLPBP Missense Variant

Journal of Pediatric Genetics, 2019
Katja Kloth, Philipp Deindl, Jessika Johannsen   +2 more
exaly