Adolescent-Onset and Adult-Onset Vitamin-Responsive Neurogenetic Diseases: A Review.
Sign Up to like & getrecommendations! Published in 2021 at "JAMA neurology"
DOI: 10.1001/jamaneurol.2020.4911
Abstract: Importance Vitamin-responsive inherited diseases are among the rare genetic disorders with a specific pharmacological treatment. Many of these conditions have a prominent neurological phenotype that is mainly reported in children. Being rare and often strikingly… read more here.
Keywords: vitamin responsive; neurogenetic diseases; adult onset; responsive neurogenetic ... See more keywords
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.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of pediatric genetics"
DOI: 10.1055/s-0039-1685501
Abstract: Recently, mutations in the PLPBP gene were described as a novel cause for vitamin B6-responsive epilepsy. We report the outcome in case of a male adolescent with a novel homozygous missense variant in PLPBP who… read more here.
Keywords: responsive epilepsy; epilepsy; seizure; vitamin responsive ... See more keywords
The Clinical Features and Long-Term Follow-Up of Vitamin B6-Responsive Infantile Spasms in a Chinese Cohort
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.895978
Abstract: Objective To analyze the clinical features, treatment, and prognosis of patients with vitamin B6-responsive infantile spasms (IS). Methods The clinical features, genetics, and follow-up data of 30 patients were collected and analyzed. Results The age… read more here.
Keywords: time; infantile spasms; responsive infantile; vitamin responsive ... See more keywords
Vitamin-Responsive Movement Disorders in Children
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Indian Academy of Neurology"
DOI: 10.4103/aian.aian_678_19
Abstract: Movement disorders in childhood comprise a heterogeneous group of conditions that lead to impairment of voluntary movement, abnormal postures, or inserted involuntary movements. Movement disorders in children are frequently caused by metabolic disorders, both inherited… read more here.
Keywords: movement; responsive movement; deficiency; movement disorders ... See more keywords