Ketogenic dietary therapies were associated with improvement in motor symptoms in most reported cases, although outcome data were heterogeneous and non-standardized, highlighting the need for prospective studies with standardized outcome measures.
The results highlight the need for a unified diagnostic framework for ATP1A3-related disorders and demonstrate the feasibility and scientific value of coordinated rare disease research in resource-limited settings.
Victor Rebelo Procaci, Raphael Pinheiro Camurugy da Hora, Anna Maria Gomes et al.· Neurology: Genetics· 0 citations
Findings expand the phenotypic and genotypic spectrum of Glut1‐DS, highlight the high proportion of previously unreported SLC2A1 variants in the Brazilian population, and reinforce the importance of comprehensive genetic evaluation and counseling for affected families.
Lívia Maria Ferreira Sobrinho, Juliana Cristine Fontana, C. Lorea et al.· JIMD Reports· 0 citations
Evidence from included studies suggests that pain may occur early and represents a significant contributor to disease burden, and CANVAS should be considered in patients with idiopathic sensory neuronopathy, even when pain is present.
Panayiota Neophytou, S. Kalampokini, Constantinos Avraam et al.· Pain and Therapy· 1 citation
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden. Methods Forty‐two individuals with genetically confirmed PDCD (86...
A. Savvidou, Colin Reilly, K. Sofou et al.· Annals of Clinical and Trans...· 0 citations
Epileptic seizures in patients with KBG syndrome are usually generalized and have an onset between infancy and mid-teens, and common epileptological features in KBG syndrome comprise the good response to antiseizure medication and, in most cases, the remitting nature of epilepsy.
S. Kalampokini, Evripidis Pityrigkas, Zoi Kallia et al.· Epileptic disorders· 0 citations
The characterization of prominent VUS in OMIM-associated genes and a novel LRRK2 structural variant undetected by routine MLPA highlights the evolving complexity of PD genetics and the critical need for integrating comprehensive, read-depth-based CNV analysis into standard pipelines.
Sezin Canbek, M. F. Gulseven, Goncagül Mert et al.· Neurogenetics· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.