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D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS).
JIMD Rep
January 2025
Adult and Paediatric National Metabolic Service Starship Children's Hospital, Te Toka Tumai, Te Whatu Ora Health New Zealand Tāmaki Makaurau Auckland New Zealand.
Background: Deficiency of the Glut1 transporter due to mono-allelic variants in causes hypoglycorrhachia, resulting in a neurological spectrum from neonatal epilepsy to adult-onset paroxysmal movement disorders (PMD). The brain utilises ketone bodies as an alternative energy source to glucose. Thus, early initiation of the ketogenic diet (KD) is standard care for Glut1 deficiency syndrome (Glut1DS).
View Article and Find Full Text PDFGenotypic and phenotypic characteristics of ADGRV1 mutations in four children and functional validation in a zebrafish model.
Gene
January 2025
Department of Neurology Children's Hospital of Chongqing Medical University, China; National Clinical Research Center for Child Health and Disorders, China; Ministry of Education Key Laboratory of Child Development and Disorders, China; Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, China. Electronic address:
Mutations in ADGRV1 can cause seizures, but the mechanism remains unclear. The zebrafish model can be used to assess the functions of human ADGRV1 and its variant alleles during embryonic development. In this study, we summarized the phenotypic and genotypic characteristics of four children with ADGRV1 variation and based on this, we validated the ADGRV1 loss phenotype in an adgrv1-knockout zebrafish model.
View Article and Find Full Text PDFEfficacy of prophylactic sodium valproate in pediatric migraines: a systematic review of randomized clinical studies.
Transl Pediatr
December 2024
Eastman Institute for Oral Health, Center of Orofacial Pain and Temporomandibular Joint Disorders, Rochester, NY, USA.
Background: Migraine is a neurological disorder that is chronic and presents with episodes of paroxysmal features consisting of multiphase attacks of head pain, along with other symptoms related to neurological dysfunction such as sensitivity to movement, photophobia, phonophobia, nausea, and vomiting. Antiseizure medications are frequently used for the treatment of migraine. Of the antiseizure medications, sodium valproate and topiramate have received approval from the Food and Drug Administration (FDA) to prevent adult migraine.
View Article and Find Full Text PDFThe Importance of Frailty in Older Adults With Benign Paroxysmal Positioning Vertigo.
J Neurol Phys Ther
November 2024
Faculty of Rehabilitation Sciences, REVAL-Rehabilitation Research Centre, Hasselt University, Hasselt Diepenbeek, Limburg, Belgium (S.P., P.M., J.S.); Department of Otorhinolaryngology and Head & Neck Surgery, School for Mental Health and Neuroscience, Faculty of Health Medicine and Life Sciences, Maastricht University Medical Centre, The Netherlands (S.P., R.V.D.B); Department of Otorhinolaryngology, Head and Neck Surgery ZOL Hospital, Belgium (N.L., W.L.); and Department of Nutrition and Movement Sciences, NUTRIM Institute of Nutrition and Translational Research in Metabolism, Maastricht University, The Netherlands (K.M.).
Background And Purpose: Even though Benign Paroxysmal Positioning Vertigo (BPPV) is one of the most reported vestibular disorders, its interaction with frailty and postural control in older adults is hardly or not investigated.
Methods: Thirty-seven older adults (≥65 years) with a diagnosis of BPPV (oaBPPV) (mean age 73.13 (4.
Physical Activity and Frailty Are Impaired in Older Adults with Benign Paroxysmal Positional Vertigo.
J Clin Med
December 2024
Faculty of Rehabilitation Sciences, REVAL-Rehabilitation Research Centre, Hasselt University, 3590 Diepenbeek, Belgium.
: Benign Paroxysmal Positioning Vertigo (BPPV), diagnosed in 46% of older adults with complaints of dizziness, causes movement-related vertigo. This case-control study compared physical activity, frailty and subjective well-being between older adults with BPPV (oaBPPV) and controls. : Thirty-seven oaBPPV (mean age 73.
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