Ontology highlight
ABSTRACT:
SUBMITTER: Caglayan AO
PROVIDER: S-EPMC3087996 | biostudies-literature | 2010 Jul
REPOSITORIES: biostudies-literature
Caglayan Ahmet Okay AO Gumus Hakan H Kato Mitsuhiro M
Journal of pediatric neurosciences 20100701 2
The West syndrome (WS) is a characteristic form of epilepsy which usually begins in the first year of life. We describe two female siblings, aged 4 and 2 years, respectively, born from third degree consanguineous parents, with infantile spasms and developmental delay. Epileptic spasms had not a good outcome under antiepileptic drug treatment. Clinical and imaging features were of different severity in both siblings. Routine biochemical tests, metabolic investigations, and chromosomal analysis we ...[more]