Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.08.003
Abstract: Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. Phenotypic features of 2q23.1 deletion or disruption of MBD5 gene… read more here.
Keywords: diagnostic exome; intellectual disability; mbd5; disability epilepsy ... See more keywords
Bone health, intellectual disability and epilepsy: An observational community‐based study
Sign Up to like & getrecommendations! Published in 2022 at "Acta Neurologica Scandinavica"
DOI: 10.1111/ane.13612
Abstract: Intellectual disability (ID) and epilepsy are independent risk factors for osteoporosis. Diverse predisposing factors influence this, for example in ID, genetics and poor nutrition and in epilepsy, anti‐seizure medication (ASM). Around 25% people with ID… read more here.
Keywords: intellectual disability; disability epilepsy; bone; community ... See more keywords
Functional Characterization of CLCN4 Variants Associated With X-Linked Intellectual Disability and Epilepsy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2022.872407
Abstract: Early/late endosomes, recycling endosomes, and lysosomes together form the endo-lysosomal recycling pathway. This system plays a crucial role in cell differentiation and survival, and dysregulation of the endo-lysosomal system appears to be important in the… read more here.
Keywords: intellectual disability; disability epilepsy; linked intellectual; clcn4 variants ... See more keywords