Affiliation: Hospital Universitari Vall d'Hebron
Kingswood J, Bruzzi P, Curatolo P, de Vries P, Fladrowski C, Hertzberg C, et al
. TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex. Orphanet J Rare Dis. 2014;9:182 pubmed publisher
..This large-scale international registry to study TSC could serve as a model to encourage planning of similar registries for other rare diseases. ..
Marcé Grau A, Dalton J, López Pisón J, García Jiménez M, Monge Galindo L, Cuenca León E, et al
. GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females. Orphanet J Rare Dis. 2016;11:38 pubmed publisher
..The distorted sex ratio (12/12 females) of the condition remains unexplained; a differential gender effect of the disruption of G-protein- mediated signal transduction on the developing brain can be hypothesized. ..
Izquierdo Serra M, Martinez Monseny A, Lopez L, Carrillo Garcia J, Edo A, Ortigoza Escobar J, et al
. Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy. Int J Mol Sci. 2018;19: pubmed publisher
..1 channel. CaV2.1 hypoglycosylation may cause ataxia and SLEs in PMM2-CDG patients. Aberrant CaV2.1 N-glycosylation as a novel pathomechanism in PMM2-CDG opens new therapeutic possibilities. ..
Macaya A, Brunso L, Fernàndez Castillo N, Arranz J, Ginjaar H, Cuenca León E, et al
. Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study. Neuropediatrics. 2005;36:389-94 pubmed
..MoCo deficiency should be considered in the differential diagnosis of neonatal hyperekplexia, particularly in the instances of refractoriness to clonazepam, an early demise in infancy or the evidence of no mutations in the GLRA1 gene. ..
Vila Pueyo M, Pons R, Raspall Chaure M, Marcé Grau A, Carreño O, Sintas C, et al
. Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe. J Neurol Sci. 2014;344:37-42 pubmed publisher
..We confirmed ATP1A3 mutations in half of our patients. Further AHC genetic studies will need to investigate large rearrangements in ATP1A3 or consider greater genetic heterogeneity than previously suspected. ..