Publications by authors named "Erandee Robertson"
Genetic epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant familial epilepsy syndrome characterized by distinctive phenotypic heterogeneity within families. The SCN1B c.363C>G (p.
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- - Childhood apraxia of speech (CAS) is a severe speech disorder linked to motor planning and genetic factors, with many cases involving specific gene mutations.
- - In a study of 70 individuals with CAS, researchers used genome sequencing to identify damaging genetic variants, discovering high-confidence variants in 26% of participants and doubling the number of known candidate genes related to CAS.
- - The findings highlight the significance of chromatin organization and gene regulation in CAS, suggest shared genetic risks with other neurodevelopmental disorders, and stress the importance of understanding these genetic causes for better diagnosis and treatment options.