Developmental and epileptic encephalopathies (DEEs) are a group of severe childhood-onset disorders characterized by drug-resistant epilepsy and a broad spectrum of neurodevelopmental, behavioral, psychiatric, and systemic manifestations. Although seizure control has traditionally been the primary therapeutic goal, gro...
G. Dell'Isola, Michele Sorrentino, Sara Massara et al.· Frontiers in Neurology· 0 citations
The authors' findings reveal separable effects on TLR trafficking, downstream signalling and inflammasome activation, identifying CNPY3 as a key regulator of multiple cellular pathways involved in inflammatory responses and neurodevelopment.
Vera Garloff, M. Grimmel, R. Maroofian et al.· EBioMedicine· 0 citations
This case adds longitudinal clinical, neuroimaging, ophthalmological, and neuropsychological data to the limited literature on patients carrying the p.Arg272His variant, supporting further investigation of genotype–phenotype relationships in ARSACS.
Vincenzo Sortino, A. Sapuppo, Anastasia Bernabini et al.· Neurogenetics· 0 citations
A retrospective multicenter case series of seven previously unreported individuals with heterozygous FBXW7 variants identified through clinical genetic testing expands the phenotypic spectrum associated with FBXW7-related neurodevelopmental disorder and highlights variable expressivity and incomplete penetrance.
Salvatore Savasta, F. Comisi, G. Dell’Isola et al.· Journal of Neurodevelopmenta...· 0 citations
PPP1R21-related neurodevelopmental disorder (PPP1R21-NDD) is an ultra-rare autosomal-recessive encephalopathy caused by dysfunction of the Five-subunit Endosomal Rab5 and RNA/ribosome intermediarY (FERRY) complex. To delineate the clinical, neuroimaging, and molecular spectrum of PPP1R21-NDD and outline diagnostic and...
F. Comisi, G. Di Pasquale, A. Comisi et al.· Neurogenetics· 0 citations
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