… itself the neuronal/brain structural phenotype underlying the ISs or indirectly by causing a
complex syndromic phenotype (ie, a recognizable malformation syndrome or an inborn error of …

… The term West syndrome (WS) refers to a form (a subset) of … There is a growing evidence that
ISs and related phenotypes … Children with these genetic associations also have phenotypes …

… severe phenotypes … West syndrome, we compared the phenotypic spectrum of clarified
versus unclarified cases. Our study illustrates that West syndrome is an electroclinical syndrome …

… Although the phenotype of CDKL5 mutation is similar to Rett syndrome caused by … West
syndrome. Lissencephaly caused by LIS1 or DCX mutation frequently results in West syndrome, …

… Many genotype-phenotype studies have been conducted. In July 2021, the “West syndrome”
… -phenotype correlation in the Vietnamese population where no data has yet been reported. …

… In this respect, the ISs and related phenotypes, could be … or less severe) phenotype, which
in turn is related to the type or … strategies for ISs and related phenotypes, we should also look …

… Clinically, these five patients were characterized by the presence of West syndrome (WS),
periventricular leukomalacia (PVL), and microcephaly, but none had a history of premature …

… The present work describes three male patients affected by variable clinical features of
West syndrome and presenting more than one mutation in CDKL5 gene. All the identified …

… investigations of a patient with severe West syndrome. Results of two candidate genes ie …
compared the resulting patient phenotypes and the subcellular mutated protein localization. …

… et al., 1991], trisomy 4p is not described as a syndrome with seizures as a component. To
our knowledge, no classical West syndrome has ever been associated to 4p trisomy syndrome. …